SMCs derived from the X

sSMC derived from unknown acrocentric chromosome

Here not all available older SMC-cases identified in the pre-FISH era are included!

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

Abbreviations and FISH-methods

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Cases without clinical findings (O):

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
acro- O-1	male	39y	PBL	n.a.	47,XY,+mar (bisatellited)	n.a.	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.	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	n.a.	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	n.a.	normal phenotype and no children in connection with OAT III syndrome	{9} case 111
acro- O-6	male	23y	PBL	n.a.	47,XY,+mar (metacentric)[80%]/ 46,XY[25%]	inv dup (acro)(p10)*	M-FISH	n.a.	normal phenotype with fertility problems and azoospermia	{10}
acro- O-7	n.a.	pranatal	AF	maternal	47,+mar [?%]	inv dup (acro)(p10)*	n.a.	n.a.	normal phenotype in mother, child normal in sonography	{11}

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Cases with unclear/insufficient characterization of the sSMC itself (C):

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
acro- C-1 to acro- C-5	various	prenatal	AF	familial or de novo	47,+mar	n.a.	n.a.	n.a.	none or n.a.	{2}
acro- C-6 to acro- C-15	various	prenatal or postnatal	AF or PBL	familial or de novo	47,+mar	n.a.	n.a.	n.a.	none or n.a.	{3}
acro- C-16 to acro- C-79	various	prenatal or postnatal	AF or PBL	familial or de novo	47,+mar	n.a.	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.	n.a.	none or n.a.	{4}
acro- C-81 to acro- C-111	various	prenatal and postnatal	AF and PBL	familial or de novo	47,+mar	n.a.	n.a.	n.a.	none or n.a.	{5}
acro- C-111 to acro- C-118	various	prenatal and postnatal	AF and PBL	familial or de novo	47,+mar	n.a.	n.a.	n.a.	none or n.a.	{6}
acro- C119	female	n.a.	PBL	familial	47,XX,+mar	n.a.	n.a.	n.a.	none in family; index case with Sturge-Weber syndrome	{7}

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Cases with an sSMC with neo-centromere (N):

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	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	n.a.	see below	{0} case provided by Dr. Polityko, Minsk, Belarus
acro-N-mar/1	normal phenotype - fertility problems									{0} case provided by Dr. Polityko, Minsk, Belarus
acro-N-mar/2	male	40y	PBL	n.a.	47,XY,+mar (metacentric)[39]/ 46,XY[11]	neo inv dup (acro)(p11)	acro-cenM; midi; acro cenM; CENPB and CENP C	n.a.	see below	{9} case 110
acro-N-mar/2	normal man; planed ICSI									{9} case 110

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References

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