- sSMC - arocentric derived CHROMOSOMES

References

 

	Cases without clinical findings	9	Cases with clinical findings	0	symptoms
	Cases with unclear clinical correlation		Cases with neocentromeres	2	tumor 0
			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!

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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
	acro- O-1	male/ 39y	PBL	n.a.	47,XY,+mar (bisatellited)	n.a.	n.a.	five consecutive spontaneous abortions of partner and no live born children	{1} case 1
	acro- O-2	male/ 31y	PBL	familial (3 generations)	47,XY,+mar (bisatellited)	n.a.	n.a.	9 years of infertility in partnership before first child	{1} case 2
	acro- O-3	female/ 27y	PBL	n.a.	47,XX,+mar (metacentric)	rev ish. acrop++	midi	normal woman - a child was lost  a week 16 due to a karyotype 46,X,+mar	{8} case 2
	acro- O-4	moved to acro-N-mar/2
	acro- O-5	male/ 29y	PBL	n.a.	47,XY,+mar (metacentric)[25%]/ 46,XY[75%]	inv dup (acro)(p10)	cenM, M-FISH, acro-cenM	normal phenotype and no children in connection with OAT III syndrome	{9} case 111
	acro- O-6	male/ 23 or 32y	PBL	n.a.	47,XY,+mar (metacentric)[80%]/ 46,XY[20%]	inv dup (acro)(p10)*	M-FISH	normal phenotype with fertility problems and azoospermia	{10; 12}
	acro- O-7	male/ adult	PBL	n.a.	47,XY,+mar (metacentric)[23]/ 46,XY[7]	inv dup (acro)(p10)	acro-cenM midi	normal phenotype infertile	{0} provided by Anton Brovko. Ukraine
	acro- O-8	male/ adult	PBL	n.a.	47,XY,+mar (metacentric)[50%]/ 46,XY[50%]	inv dup (acro)(p10)	acro-cenM	normal phenotype infertile	{0} provided by Dr. Ergun, Turkey
	acro-15 O-1	male/ prenatal	AF	n.a.	47,XY,+mar (metacentric)[35%]/ 46,XY[65%]	inv dup (15)(p10) D15Z1 in 15q11.2 present twice, but no alpha-satellite	acro-cenM	advanced maternal age	{0} provided by Dr. Losan. Czech Rep

 

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References

Cases with clinical findings (W)

 

none available

 

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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
	acro- C-1 to 5	various/ prenatal	AF	familial or de novo	47,+mar	n.a.	n.a.	none or n.a.	{2}
	acro- C-6 to 15	various/ prenatal or postnatal	AF or PBL	familial or de novo	47,+mar	n.a.	n.a.	none or n.a.	{3}
	acro- C-16 to 79	various/ prenatal or postnatal	AF or PBL	familial or de novo	47,+mar	n.a.	n.a.	none or n.a.	review of literature before 1983 {3}
	acro- C-80	various/ postnatal	PBL	familial	47,+mar (#15 was excluded)	n.a.	n.a.	none or n.a.	{4}
	acro- C-81 to 111	various/ prenatal and postnatal	AF and PBL	familial or de novo	47,+mar	n.a.	n.a.	none or n.a.	{5}
	acro- C-111 to 118	various/ prenatal and postnatal	AF and PBL	familial or de novo	47,+mar	n.a.	n.a.	none or n.a.	{6}
	acro- C119	female/ n.a.	PBL	familial	47,XX,+mar	n.a.	n.a.	none in family; index case with Sturge-Weber syndrome	{7}

 

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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
	acro- N- mar/1	male/ 27y	PBL	de novo	47,XY,+mar[100%]	neo inv dup (acro)(p11)	acro cenM; CENPB and CENP C	normal phenotype - fertility problems	{13} case 3
	acro- N- mar/2	male/ 40y	PBL	n.a.	47,XY,+mar (metacentric)[39]/ 46,XY[11]	neo inv dup (acro)(p11) aCGH: no euchromatin detected	acro-cenM; midi; CENPB and CENP C	normal man; planned ICSI	{9} case 110 {13} case 4
	acro- N- mar/3	male/ 43y	PBL	n.a.	47,XY,+mar[100%]	neo inv dup (acro)(p11)	acro-cenM;  CENPB and CENP C	normal man; infertile	{0} provided by Dr. Demuth, Erfurt, Germany