tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC -

CHROMOSOME 7

References

 

             
  Cases without
clinical findings
4 Cases with
clinical findings
21 symptoms  
  similar imbalances - no clinical findings similar imbalances with clinical findings  
  Cases with
unclear clinical correlation
Cases with
neocentromeres
5 tumor
0
 
  similar imbalances  
      DISCLAIMER      

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!

           
  UPD (uniparental disomy) cases: UPD 7
mat
UPD 7
pat
UPD 7
unclear
 
           

 


the probably non-dosage sensitive pericentric region of chromosome 7


SCHEMATIC CYTOGENETIC DEPICTION

tl_files/tiny_templates/Bilder TL/sSMC/sSMC-7.jpg



SCHEMATIC MOLECULARGENETIC DEPICTION

acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]

 

critical region 55.42 --- 56.45 uncritical region [57.40 centromere 61.10] uncritical region 67.00 --- 74.00 critical region
Below adapted for UCSC hg19, 2009

critical region 55.45 --- 56.51 uncritical region [58.00 centromere 61.70] uncritical region 67.34 --- 74.34 critical region

 


Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region

7p - proximal 7q - proximal
symptoms
autism 0 % 11 %
brain malformations 0 % 22 %
developmental delay (100%) 88 %
dysmorphic face 0 % 88 %
finger or toe/foot malformations (long fingers) 0 % 44 %
heart defect 0 % 11 %
hypotonia 0 % 33 %
macrocephaly (100%) 11 %
mental retardation 0 % 88 %
overgrowth 0 % 44 %
vision impaired 0 % 11 %
number of cases (marked with “°” below) 1 9
 

References

Cases without clinical findings (O)

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  ***
07-O-
p11.2/
1-1

***
female/
prenatal
AF de novo 47,XX,+mar[10]/
46,XX[12]
min(7)(:p11.2q11.22:)
FISH-da
ta: RP11-10F11 (56.45 MB) on sSMC
array-data: 61.6-67.0 MB
cenM; subcenM;
UPD-test
see below {1} case 12
{0}
 
Amniocentesis due to advanced maternal age and a chronic myleogeneous leukemia under interferon-therapy of the father; child born without any signs of dysmorphism
 
***
07-O-
p11.2/
2-1
***
female/
prenatal
AF
(EKF-
cellbank)
maternal 47,XX,+mar[100%] min(7)(:p11.2q11.1:)
FISH-da
ta: RP11-10F11 (56.45 MB)
cenM;
subcenM
see below {0} provided by Dr. Kozlowski, Düsseldorf, Germany  
Amniocentesis due to advanced maternal age; mother normal; normal child born
07-O-
p11.1/
1-1
female/
24y
PBL n.a. 47,XX,+mar[82%]/
46,XX[18%]
min(7)(:p11.1q11.21:) cenM;
subcenM
infertile {43} case 7-1
                     

 

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

none reported yet

 

O-cases with unclear/insufficient characterization of the sSMC (CO):

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  07-
CO-1
male/
adult
PBL de novo 47,XY,+mar[?]/
46,XY[?]
dic(7) cep probes infertile male {18} case 8
{43} case 7-2
 
  07-
CO-2
male/
prenatal
AF de novo 47,XY[100%] mar(7) cep probes? normal at 7 days {22} case 58
{27} case 11
 
                     

 


References

Cases with clinical findings (W)

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  07-W-
p12/
1-1
moved to 07-U-13 {39} case Sm-4, {55}  
  07-W-
p11.?2/
1-1
female/
20m
PBL de novo 47,XX,+r[40]/
46,XX[12]
r(7)(::p11.?2
q11.23::)[38]/
r(7;7)(::p11.?2
q11.23:
:p11.?2
q11.23::)[2]*
cep probes
ELN-probe
see below {16} case 1  
normal pregnancy but born at 39,5 weeks of gestation by caesarean section because of breech delivery. Birth weight: 2590g, length: 45 cm OFC: 33cm. Development was considered as normal up to 9 months, the age at which she was referred to neurologist for a motor developmental delay. 20 months said her first words but she was not able to walk alone; height and weight were at the 50th percentile except for the head circumference that was 50,5 cm (90th percentile). Physical examination showed broad forehead, asymmetrical facial appearance, plagiocephaly and short nose with anteverted nostrils; extremities long and slender. Audiograms performed at thirty month revealed a moderate deafness.
  07-W-
p11.2/
1-1
moved to 07-U-14 {0} provided by Dr. Koehler, München, Germany  
  ***
07-W-
p11.2/
1-2 °
***
female/
1y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[13]/
46,XX[3]
min(7)(:p11.2
q11.21:)[5]/
r(7)(::p11.2
q11.21::)[2]/
r(7;7)(::p11.2
q11.21:
:p11.2
q11.21::)[1]
55.42-63.45 MB
cenM; subcenM
array-CGH;
UPD-test
see below {24} case 5
{38} case 7
 
Born at term (39th week) after a pregnancy complicated by repeated bleedings, birth weight 3390g, length 50cm, OFC 33cm. At 7 months statomotoric retardation, at 12 months sitting, no free walking at 26 months → developmental delay. At 13 months weight at 25~50th, length at 50~75th and OFC at 75th centile.
  07-W-
p11.2/
1-3
moved to 07-U-15 {21, 55}  
  07-W-
p11.2/
1-4
moved to 07-U-16 {34, 55
 
  07-W-
p11.2/
2-1
moved to 07-U-17 {26, 55}  
  07-W-
p11.2/
2-2
moved to 07-U-18 {6, 11, 55}  
  07-W-
p11.2/
3-1

female/
19y

PBL de novo 47,XX,+r[56%]/
46,XX[44%]

r(7)(:p11.2q21.11:)
aCGH: 54.19-79.36 (hg?)

aCGH low IQ, disturbed behaviour and a peculiar facial phenotype
{44}  
  07-
W-
p11.?1/
1-1 °
male/
9y
PBL de novo 47,XY,+r[50]/
46,XY[50]
r(7)(::p11.?1
q11.23::)[48]/
r(7;7)(::p11.?1
q11.23:
:p11.?1
q11.23::)[2]*
SKY; cep probes
ELN-probe
see below {16} case 2  
born at 34 weeks of gestation after an uneventful pregnancy; birth weight 2680g. At 16m able to walk, at 24m able to say first words. At 2 y hyperactivity, at 9y borderline performance, obesity and hyperactivity with fits of anger and speech difficulties that were partly resolved by speech therapy. At age of 11y hypertelorism and down slanting palpebral fissures; IQ scores were around 80 and school attendance was difficult but possible. Prader-Willi disease test was negative.
  07-W-
p11.1/
1-1
female/
3y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[50%]/
46,XX[50%]
at 6y: mar in 84% of the blood cells.
min(7)(:p11.1q11.1:) cenM; subcenM; UPD-test see below {0} provided by Dr.Gillesen-Kaesbach, Schwinger, Germany  
born 10 days preterm, 3040g, 47,5cm, head circumference 35cm; APGAR 6/8/9; tracheomalacia, corpus callosum agenesis, muscular hypotonia, developmental retardation; develops better with age - at 3y start of speaking but uses also sign language; partial deafness; nonetheless developmental delay, at age of 6 seizures; at 6.5y: height 110.5cm (2nd centile), head circumference 52.2cm (50th centile),  weight 17kg (2nd centile), broad nasal bridge, deep sitting hairline anterior and posterior, hypopigmentation at breast and belly, additional hypoplastic mammilla right, dysplastic ears.
  07-W-
p11.1/
2-1 °
female/
4m
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[26]/
46,XX[14]
r(7)(:p11.1q11.21:)[15]/
r(7;7)(:p11.1
q11.21:
:p11.1
q11.21:)[4]/
r(7;7;7;7)
(:p11.1
q11.21:
:p11.1
q11.21:
:p11.1
q11.21:
:p11.1
q11.21:)[1]
FISH-data: RP11-3N2 (63.22 MB) on sSMC
aCGH: 7p11.2-7q11.23 (56,115,171-74,208,699 MB), 2 copies
cenM; subcenM; UPD-test see below {1} case 13
{20}
 
Except for reduced fetal movements and dietetically managed gestational diabetes during the last 8 weeks, pregnancy and delivery were normal. Born in 37th week of gestation, birth weight: 3,665 g, birth length: 54 cm, head circumference: 37 cm; APGAR 9/10/10. Hypotonia, poor sucking, reduced spontaneous movements, pale skin color, reduced cardiac efficiency due to aortic insufficiency and aortic root ectasia, atrial septum defect type II and a patent Ductus arteriousus. At 13 months the atrial septum defect was treated by interventional cardiac catheterization. At the age of 12 days was noted thin long hands and fingers, thin long feet and toes, broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, and dysplastic ears with prominent helix were present. Dilatated lateral ventricles and a plexus choroideus cyst were detected by ultrasonography of the brain. At the age of 13 weeks initially long fingers and toes were normal in length and the retrognathia was less pronounced. Hypotonia had improved by physiotherapy. Developmental gross motor milestones were achieved delayed: sitting at 12 months, crawling at 13 months. Hearing impairment as a result of recurrent inflammations of the middle ear. At the age of 14 months, able to utter some different sounds and to vary the tone pitch but she did not form double syllable-chains. Fine motor and grasping movements seemed to be age-appropriate. The infant is approximately 6 months delayed in psychomotor development.
  07-W-
p11.1/
2-2
moved to 07-U-18 {6}
{11}
 
  07-W-
p11.1/
3-1 °
female/
5y
PBL n.a. 47,XX,+mar[50]/
46,XX[50]
r(7)(::p11.1q21.11::)
breakpoint in p: centromere
breakpoint in q: between 81.7 and 81.8 MB
cep probes, BACs array CGH; UPD-test see below {32}  
at birth: 4030g (>97th centile), length 51 cm (75th centile) and OFC 36 cm (50th centile). No clinical symptoms in neonatal period. Motor development was slightly delayed: she was hypotonic at birth and was sitting at age of 9 months; walking abilities were in the normal range and since the age of 12 months, she could walk without support. However, speech was severely delayed: first words were not until 3 years of age, and her language skills were delayed with poor performances on the expressive side. No hearing loss. At 5 y language delay, weight24.8 kg (95th centile), height 114 cm (90th centile), and OFC 53 cm (97th centile). Flat face, high and prominent forehead, deep-set eyes, short nose, prominent nasal root close to frontal bone, short philtrum, thick columella, thin lips, relative microstomia with downturned corners, and low set ears, fingers had wide nails; a partial cutaneous syndactyly was present between 2nd and 3rd toe, hirsutism on the dorsal side of her limbs and a cafe´-au-lait macula on the abdomen. Her slightly retarded psychomotor development improved with time.
  07-W-
p11.1/
4-1 °
male/
7y
PBL n.a. 47,XY,+mar[50]/
46,XY[50]
min(7)(:p11.1q21.11:)
FISH-data: RP11-3N2 (63.22 MB) on sSMC
cenM; subcenM learning difficulties, language disturbance and attention deficit {0} provided by Dr. Ana Barreta, Alges, Portugal  
  ***
07-W-
p11.1/
5-1 °
***
male/
3y
PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]
mar(7)(::p11.1q11.23::)
array-CGH: 62.0-74.0MB
array CGH
FISH; UPD-test
see below {35}  
pregnancy uneventful, birth measurements within normal range, motor milestones delayed (sitting achieved at 10 months and gait at 17 months). language markedly impaired (firstword at 27 months), deep mental retardation and particular behavioral troubles (alternation of periods of apathy and aggressiveness), autism . Facial dysmorphic was consistent with Williams Beuren Syndrome Critical Region (WBSCR) duplicated patients. Macrocephaly was also observed (+4SD). MRI showed non-specific posterior white substance anomaly andcardiac ultrasound was normal.
  07-
W-
p10/
1-1 °
male/
19y
PBL paternal
(35%)
47,XY,+mar[100%] r(7)(::p10q11.2::) midi, FISH-probe D7Z1; UPD-test see below {4} case B
{5} case I
{10} case 2
{41} referring to father
 
Progressive neurological findings (syncope, dystonia), mentally retarded (low performance), high narrow forehead, micrognathia, low set ears, down slating palpebral fissures, dental problems, long and slender fingers; development of the patient was considered as normal up to the age of 5y; Father normal.
  07-W-
p10/
1-2 °°°
male and female/
3y and 4y
PBL maternal (50%) 47,+mar[50%]/
46[50%]
r(7).ish(q11.2+) FISH-probes: P7t1, wcp7, YAC D7S250; UPD-test see below {7}  

Case 4a:
birth weights around 4400g, developmental delay, mild mental retardation, flat nasal bridge, prognathia, simply formed ears, down slating palpebral fissures.
Case 4b:
The first child (girl): born 44 weeks of gestation after a normal pregnancy and delivery by forceps extraction. Birth weight 4,650 g (>97th centile); bifid uvula, midline cleft palate. At 4 y developmental delay and an unusual face; motor milestones in the normal range; speech development considerably retarded; occipito-frontal circumference (OFC) 50.5 cm (50th centile), weight 19 kg (75th centile), length 106.6 cm (50-90th centile;. short forehead, flat face, high and broad nasal bridge, short nose, slight left, ptosis and epicanthus, short philtrum, small mouth, and low-set, posteriorly rotated and simply formed ears with a thick helix, right simian crease, genua valga. At age of 10 y:  length 153.5 cm (90th centile), weight 48 kg (90th centile), and OFC 54.5 cm (98th centile). IQ tested with Wechsler Intelligence Scale for Children (WISC-R): verbal intelligence was 57; performance intelligence, 73.
Case 4c:
The second child (boy): delivery at term by cesarean section after a normal pregnancy. Birth weight 4,250 g (97th centile). At age of  23 m slow psychomotor development (delay of 6 m). At 3 years: speech development severely retarded; length 113 cm (>97th centile), weight 22 kg (>98th centile), and OFC 53.5 cm (98th centile). Face similar to that of his sister: short forehead, flat face, downward slant of the palpebral fissures, high and broad nasal bridge, short nose, short philtrum, small mouth, slight prognathia, and posteriorly angulated and simply formed ears with a truck helix .
Mother of boy and girl: speech difficulties of unknown origin when she was 2 years old, which were partly resolved by speech therapy; presently working as a housekeeper. low performance, speech is difficult to understand; length 170 cm (50-90th centile), weight 78 kg (>90th centile), OFC 53.5 cm (2nd-50th centile). Facial traits similar to those of her children: short forehead, flat face, high and broad nasal bridge, simply formed, posteriorly angulated ears, prognathia. palpebral fissures horizontal. 

  ***
07-W-
p10/
1-3 °
***
female/
4y
PBL de novo 47,XX,+r[50]/
46,XX[50]
r(7)(::p10q11.23::)*
61.8 to 77.11MB
(sSMC derived from a maternal chromosome 7)
SKY; subcen-probes;
array-CGH; UPD-test
see below {15}  
Normal pregnancy and birth; normal birth weight; at birth bilateral pes adductus - resolved after physiotherapy; hypotonia; recurrent middle ear infections from age of 3 m; developmental delay, walking at 2y, at 3 y severely retarded speech development and delayed motor milestones (at 4y only speaking a few words). At 4y normal appearance with minor facial dysmorphism: strabismus, thin lips, low set, posteriorly rotated ears with a thick over folded helix; severe delay of motor development and mental dev. delay of ~17months; an MRI scan of the brain demonstrated wide ventricles and prominent basal cisterns. Ophthalmologic examination revealed bilateral tortuous retinal vessels and esotropia of the right eye.
                     

 

W-Cases with similar imbalances NOT caused by sSMC (W-IMB):

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  07-W-
IMB-p13/
1-1
female/
6y
PBL maternal 46,XX,dup(7)(p13p12.1) wcp 6, BACs borderline mental retardation, minor anomalies with growth retardation {29}  
  07-W-
IMB-p13/
1-2
female/
5y
PBL de novo 46,XX,dup(7)(p13p12.1) wcp 6, BACs borderline mental retardation, minor anomalies with growth retardation {30}  
                   


W-cases with unclear/insufficient characterization of the sSMC (CW):

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  07-
CW-1
male/

12y

PBL de novo 47,XY,+mar[100%] r(7) FISH-probes D7Z1;
(WBS)
see below {8}  
birth weight 2858g, speech delay, mental retardation (IQ 69); no growth retardation at age of 12; epicanthal fold, low set ears, long philtrum; dental problems, long and slender fingers and extremities with hyper extensibility; no palpable testis
  07-
CW-2
male/

7m

PBL de novo 47,XX,+mar[100%] r(7)[86%]/
r(7;7)[14%]
different FISH-probes: telomeric probe; all centromeric probes in an array; GATA 4 in 8p23.1, UPD-test severe developmental delay, seizures {9} case 4  
  07-
CW-3
n.a./

prenatal

AF de novo 47,+r[?] r(7) FISH with ? probes; UPD-test Ultrasound was normal in week 22; however, termination of pregnancy; autopsy revealed some external and internal abnormalities {19}  
  07-
CW-4
n.a./

prenatal

AF de novo 47,+mar[48%]/
46[52%]
r(7) wcp7; cep7 Advanced maternal age. sonographic malformations: ambiguous genitalia, macrocephaly, TOP; Fetopathology: facial dysmorphism: macrocephaly, microretrognathism, micropenis {33} case 12  
                     

 

 


References

Cases with unclear clinical correlation (U)

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  07-
U-1
female/
1y
PBL de novo 47,XX,+mar[100%] der(7)t(X;5;7) (p22.1;q35;p13q21) flow sorting and reverse painting; locus specific probes see below {2; 3; 42} 
{10} case 13
 
born at term; APGAR 3/?/10; 2900g, 47cm, 33cm; child with shrill cry, beaked nose, small palpebral fissures, micrognathia, high arched palate, right hand simian crease; during live severe growth retardation; at age of 20 no speech and severe mental retardation; weight of only 19 kg and 120 cm tall.
  07-
U-2
n.a./
n.a.
n.a. n.a. 47,+mar[?] mar(7) all centromeric probes n.a. {14} 1 case  
  07-
U-3
female/
prenatal
AF n.a. 47,XX,+mar[40%]/
46,XX[60%]
min(7)(:p11.2q11.21:) cenM; subcenM Ultrasound was normal; however, termination of pregnancy; no autopsy performed {0} provided by Dr. Sagi, Israel  
  07-
U-4
male/
prenatal
AF n.a. 47,XY,+mar[14]/
46,XY[7]
min(7)(:p11.2-q11.1:
:q11.1
p11.2:)
cenM; subcenM see below {0} provided by Lina Florentin-Arar, Athens, Greece  
Ultrasound was normal; however, termination of pregnancy ~23rd week of gestation; Note added: there was tomography of pregnant woman in first weeks of gestation.
  07-
U-5
moved to mult-2-26 {0} provided by Dr. Michal Sagai, Israel  
  07-
U-6
male/
postnatal
PBL n.a. 48,XXY,+mar[30%]/
47,XXY[70%]
min(7)(:p11.2q11.21:)
distal clone RP11-1324
A7 (57.52)
distal clone in 7q RP11-196D18 (62.3MB)
array-CGH Klinefelter-syndrome {23} case 2  
  07-
U-7
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(7) centromeric probes no info available {25}1 case  
  07-
U-8
male/
10y
PBL n.a. 47,XY,+mar[13]/
46,XY[3]
min(7)(:p11.2~11.1q11.2:)
FISH data: breaks between 46.84-55.23 and 61.61-71.27
cenM, subcenM, PCL-FISH
no info available; patient has micropenis {38} case 8  
  07-
U-9
male/
prenatal
AF n.a. 47,XY,+mar[?100%] mar(7) cenM TOP - no info available {0} provided by Dr. Fuster, Spain  
  07-
U-10
female /
10y
PBL n.a. 47,XX,+mar[60%]/46,XX[40%] min(7)(:p11.1q11.23:) cenM; subcenM; UPD-test see below {40}   
Patient with problems in sex determination, uterus without ovaries, and external penis. Dense hair distribution on body (in the pubic). She has a big genital vagina, clitoris is very pronounced (large) and lift cornet. She hasn't testes. Barr body count 28%, progesterone 5.35 (normal up to 1.13 ng/ml), testosterone 210 (normal up to 100 ng %) and 17-ketosteroids 58.37 (normal up to 14 mg/24 hours). AGS - homozygote mutation in CYP21A2 gene; c.518T>A (p.Ile173Asn)
  07-
U-11
n.a./
prenatal
AF n.a. 47,+mar[9]/46[11] or 47,+mar[3]/46[17] min(7)(:p11.1q11.1~q11.21:) cenM, subcenM
array-CGH
 no info available {0} provided by Dr. SW Cheung, Houston, USA  
  07-
U-12
female/
prenatal
AF n.a. 47,XX,+mar[?%]/46,XX[?%] min(7)(:p11.1q11.21~11.22:) cenM, subcenM no info available {0} provided by Dr. Wegner, Berlin, Germany  
  07-
U-13
male/
4m
PBL de novo 47,XY,+mar[4]/
46,XY[46]
min(7)(:p13p11.1:)
maternal

(iso-)disomy  UPD 7
aCGH: 44,864,487- 57,562,142 MB
cep probes
ELN-probe; UPD-test
Dystrophy, developmental delay, abnormal ears. {39} case Sm-4
{41}
 
  07-
U-14
female/
5y
PBL
(EKF-
cellbank)

de novo 47,XX,+mar[15] min(7)(:p11.2q11.1:)
FISH-data: RP11-10F11 (56.45 MB) on sSMC
aCGH: 45.07-64.85
maternal (iso-)disomy UPD 7
cenM; subcenM;
array-CGH; UPD-test
see below {0} provided by Dr. Koehler, München, Germany  
  pre- and postnatal growth-retardation; height at age of 4.5 9cm below 3rd percentile, weight: 3kg below 3rd percentile; macrocephalus; macro cornea; Silver Russel syndrome confirmed by molecular genetics  
  07-
U-15
male/
1y
PBL de novo 47,XY,+mar[9]/
46,XY[16]
min(7)(:p11.2q11.21:)*
maternal UPD 7
centromere-near BACs, centromeric probe 7; UPD-test
 
see below {21, 55}  
Intrauterine growth retardation from 34th week of pregnancy → birth induced at 38 weeks of gestation; birth weight 2305 g (<3rd percentile), length 45 cm (<10th percentile) and OFC 34 cm (50th percentile). At 1y, growth retardation: length 68 cm (<3rd percentile), weight 5740 g (<3rd percentile) OFC 45 cm (10-25th percentile). Triangular face, large, low set ears and mild psychomotor retardation; could not roll over or sit up alone → Silver Russel syndrome signs.
  07-
U-16
male/
36y
PBL de novo 47,XY,+mar[22]/
46,XY[7]
min(7)(:p11.2q11.21:)*
maternal UPD 7
centromere-near BACs, centromeric probe 7; UPD-test
 
Silver Russel syndrome, Myoclonus dystonia {34, 55}  
  07-
U-17
n.a./
n.a.
PBL de novo 47,+mar[4%]/
46[96%]
r(7)(::p11.2q21::)*
maternal UPD 7
centromere-probes, wcp 7; UPD-test see below {26, 55}  
IUGR, caesarean section in week 33 of gestation, Silver Russel syndrome; twin brother normal (dizygote)
  07-
U-18
female/
20m
PBL de novo 47,XX,+mar[27%]/
46,XX[73%]
r(7)(::p11.1q11.2?2::)*
maternal UPD 7
FISH-probe wcp7 ; UPD-test see below {6, 11, 55}  
birth weight 1020 g in week 34; intrauterine and postnatal growth retardation, no mental retardation (?); triangular face, micrognathia, hypertelorism, clinodactyly  of 5th finger; Silver Russel syndrome confirmed by molecular genetics
  07-
U-19
female/
6y
PBL de novo 47,XX,+mar[?100%] r(7)(::p11.2q11.23::)
aCGH: region 70.42-73.21 duplicated on ring
iso-UPD 7 of normal chrs. 7
SNP-based a-CGH macrocephaly, DD, self injury behaviour {36}  
  07-
U-20
male/
prenatal
AF n.a. 47,XY,+mar[3]/46,XY[22] mar(7) SKY Prenatal ultrasound with an unspecified kidney abnormality; no info available on phenotype at 2 y {37} case F043725  
  07-
U-21
male/
3y
PBL
(EKF-
cellbank)
de novo 47,XY,+mar[75%]/
46,XY[25%]
min(7)(:q11.1p11.1:
:p11.1
q11.21:)
UPD 7 of normal chrs. 7
cenM,
subcenM
Silver Russel syndrome {0} provided by Dr. Yardin, Montpellier, France  
  07-
U-22
male/
4y
PBL n.a. 47,XY,+mar[20%]/
46,XY[80%]
min(7)(:p11.1q11.1:)
cenM,
subcenM
see below
{0} provided by Dr. Yardin, Montpellier, France  
  At birth: weight: 3.860 kg; length: 52 cm, cranial perimeter: 37 cm; at 4 years: weight: 31.300 kg; height: 1m18 (=> + 2DS) cranial perimeter: 54 cm (=> +2.5 DS); walk at 11 months, no langage, urinary continence is acquired, autistic disorder,  no dysmorphy, advanced statural growth (+2 DS), global delayed development  
                     

 


References

Cases with neocentromeres (N)

 

 
  case no. gender/
age at diagnosis
studied 
material
de novo/
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  07-N-
mar/1
n.a./
child
PBL n.a. 47,+mar[45%]/
46[55%]
mar(7) kind of M-FISH learning/developmental delay/dysmorphic features {12}  
  07-N-
q22.1/
1-1
prenatal/
male
AF; PBL de novo 47,XY +r(7) [8]/ 46,XY [92]
sSMC in amnion: 59%; in blood (3 months): 28% in blood, 10 years): 7-8%
r(7)(q22.1q31.1)(RP11-473H4+,
RP11-656D16+)
aCGH
FISH M-FISH
Intrauterine growth restriction (IUGR), Mental
retardation, developmental delay, facial abnormalities, external genital defects; axial hypotonia, segmental hypertonia
{0} provided by Dr C. Schluth-Bolard and C. Louvrier; Bron, France  
  07-N-
q22/
1-1
see McClintock mechanism cases {46}  
  07-N-
qt35/
1-1
9y/
female
PBL, fibroblasts n.a. 47,XX,+mar[20%]/
46,XX[80%]
in skin 73% sSMC

inv dup(7)(qterq35:
:35
qter)
aCGH: 143.7Mb to qter

aCGH; FISH DYS, DD {45; 47}  
  07-N-
qt36.1/
1-1
n.a./
n.a.
n.a. n.a. n.a. inv dup(7)(qterq36.1:
:36.1
qter)
n.a. n.a. {17}  
                     

 

N-Cases with similar imbalances NOT caused by sSMC (N-IMB):

 

 
  case no. gender/
age at diagnosis
studied
material
de novo/
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  07-N-
IMB-
pter-
different
length
partial trisomy of 7pter {28}  
  07-N-
IMB-
qter-
different
length
partial trisomy of 7qter {31}