SMCs derived from the X

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

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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
u- O-1	-	-	-	-	-	-	-	-	-	-

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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
u- W-1	male	6m	PBL	de novo	47,XY,+mar[100%]	mar stains only with a reverse painting probe of itself	midi and flow sorting with rev FISH	n.a.	born at term and well at birth; delayed milestones; divergent squint; nystagmus at age of 18m; ears low-set and prominent;	{8; 10, 11}
u- W-2	female	prenatal	AF	n.a.	47,XX,+mar[100%]	mar stains only with a reverse painting probe of itself	midi with rev FISH	n.a.	no clinical info available	{11}

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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
u- C-1 to u- C-3	various	prenatal	AF	familial or de novo	47,+mar	n.a.	n.a.	n.a.	none or n.a.	{1}
u- C-4	various	postnatal	PBL	familial	47,+mar	n.a.	n.a.	n.a.	slight mental retardation	{2}
u- C-5	?	postnatal	PBL	?	47,+mar	n.a.	n.a.	n.a.	multiple anomalies	{3}original literature presently not available
u- C-6 to u- C-10	various	postnatal	PBL	de novo	47,+mar	n.a.	n.a.	n.a.	multiple anomalies	{4} plus review of literature before 1978
u- C-11 to u- C-25	various	prenatal and postnatal	AF and PBL	familial or de novo	47,+mar	n.a.	n.a.	n.a.	multiple anomalies or normal	{5}
u- C-26	male	16y	PBL	de novo	48,XY,+r,+mar[43%]/ 47,XY,+r[14%]/ 47,XY,+mar[18%]/ 46,XY[25%]	n.a.	n.a.	n.a.	Hypogonadotrophic hypogonadism; several developmental milestones delayed, hypoplastic kidney, spina bifida oculta in L4, 5; mental retardation	{6}
u- C-27	male	prenatal	AF	paternal 3/50 metaphases with mar	47,XY,+r?[7]/ 46,XY[1]	n.a.	wcpX, wcpY	n.a.	amniocenteses due to advanced maternal age	{7} case 5
u- C-28	female	5y	PBL/ Fibroblasts	de novo	47-51,XX,+mar1-5x/ [17.3%/33.6%/30%/18.2%/0.9%] 46,XX[2.7%]	n.a.	n.a.	n.a.	multiple anomalies as described in {9}	{9}

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Cases without clinical findings	Cases with clinical findings
Cases with unclear clinical correlation