TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #14/22 -
UNCLEAR

Cases without clinical findings	Similar imbalances – no sSMC
Cases with clinical findings	Similar imbalances – no sSMC
Cases without clear clinical correlation	Cases with discontinous sSMC
Cases with complex sSMC	Cases with UPD and sSMC
Cases with neocentromeres	Similar imbalances - no sSMC
Tumor	DISCLAIMER

In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!

UPD (uniparental disomy) cases:	UPD(14)mat	UPD(14)pat	UPD(14)mat or pat
UPD (uniparental disomy) cases:	UPD(22)mat	UPD(22)pat	UPD(22)mat or pat

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
14/22- U- 1	n.a./ prenatal	AF	n.a.	n.a.	min(14or22)(pter→q10:)	acro M	AMA; no clinical data available	{5} case 6
14/22- U- 2	male/ prenatal	AF	de novo	47,XY,+mar[15]	dic(22;22)(pter→q11.1: :q11.1→pter) or dic(14;22)(14pter→14q10: :22q11.1→22pter)	cenM; acrocenM; UPD-test	AMA, no further information available	{43} case 14/22-U2
14/22- U- 3	n.a./ n.a.	n.a.	n.a.	47,+mar[?]	mar(14 or 22)	all centromeric probes	n.a.	{15} 1 case
14/22- U- 4	female/ 3y	PBL	de novo	47,XX,add(8)(p),+mar[10%]/ 46,XX,t(8;14)(p23;p11)[90%]*	inv dup(14 or 22)(q10)	SKY subtel 8p and 8q	DD and multiple abnormalities as specified in {16}	{16}
14/22- U- 5	male/ n.a.	n.a.	n.a.	47,XY,+mar[100%]	mar(14 or 22)	centromeric probes	n.a.	{17} case 24
14/22- U- 6	n.a./ prenatal	AF	de novo	47,+mar[6]/ 46[68]	inv dup(14 or 22)*	centromeric probes	Amniocentesis due to ultrasound abnormalities (Diaphragma hernia, ventriculomegalia) ; TOP, no further clinical data available	{21} case 11
14/22- U- 7	male/ prenatal	AF	de novo	47,XY,+mar[16]/ 46,XY[4]	mar(14 or 22)	centromeric probes	AMA; no clinical data available	{22} case 40
14/22- U- 8	n.a./ prenatal	AF	n.a.	47,+mar[100%]	mar(14 or 22)	all centromeric probes	AMA, TOP; autopsy: low set ears, short left thumb; no major malformations	{12} case 19
14/22- U- 9	male/ prenatal	AF	de novo	47,XY,+mar[100%]	min(22)(pter→q11.1:) or min(14)(14pter→14q11.1:)	cenM, subcenM; UOD-test	AMA, no clinical data available	{43} case 14/22-U-9
14/22- U- 10 to 11	n.a./ n.a.	n.a.	n.a.	47,+mar[?%]	mar(14 or 22)	centromeric probes	no info available	{25} 2 cases
14/22- U- 12	n.a./ prenatal	AF	n.a.	47,+mar[?%]	mar(14 or 22)	SKY	no info available	{27} 1 new case
14/22- U- 13	male/ prenatal	AF	n.a.	47,+mar[100%]	mar(14 or 22) no informative result in aCGH	cep 14/22 aCGH	no info available	{28} case 4
14/22- U- 14	male/ prenatal	AF	n.a.	47,+mar[15%]	mar(14 or 22) no informative result in aCGH	cep 14/22 aCGH	no info available	{28 } case 5
14/22- U- 15	see +0Ym-14/22-1							{0} provided by Dr. Marques, Coimbra, Portugal
14/22- U- 16	female/ prenatal	AF	n.a.	47,XX,+mar[100%]	inv dup(14 or 22)(q11.1)	acrocenM, subcenM	no info available	{43} case 14/22-U-16
14/22- U- 17	see +0Ym-14/22-2							{32}
14/22- U- 18	n.a./ postnatal	PBL	n.a.	47,+mar[?%]	mar(14 or 22)	centromeric probes	clinically abnormal	{13} 1 case
14/22- U- 19	see 14/22-Uc-1
14/22- U- 20	male/ prenatal	AF	n.a.	47,XY,+mar[100%]	inv dup(14 or 22)(q11.1)	acrocenM, subcenM	no info available	{43} case 14/22-U-20
14/22- U- 21	female/ postnatal	PBL	de novo	47,XX,+mar[100%]	inv dup(14 or 22)(q11.1)	pericentric BAC-probe set	growth delay (maybe mat UPD 14)	{37} case 7
14/22- U- 22	female/ prenatal	AF	de novo	47,XX,+mar[12]/ 46,XX[38]	inv dup(14 or 22)(q11.1)	cep, aCGH	AMA, n.a.	{38} case AF-6
14/22- U- 23	see +18-14/22-1							{0}
14/22- U- 24	female/ prenatal	AF	n.a.	47,XX,+mar[100%]	min(14 or 22)(q11.1)	midi	n.a.	{43} case 14/22-U-24
14/22- U- 25	female/ prenatal	AF	n.a.	47,XX,+mar[100%]	inv dup(14 or 22)(q10)	midi	n.a.	{43} case 14/22-U-25
14/22- U- 26	female/ prenatal	AF	n.a.	47,XX,+mar[100%]	min(14 or 22)(:p11.1→q11.1:)	cenM; subcenM	AMA; no further information available	{43} case 14/22-U-26
14/22- U- 27	female/ 15y	PBL	n.a.	47,XX,+mar[100%]	inv dup(14 or 22)(q11.1)	cep	short stature and primary amenorrhoe	{43} case 14/22-U-27
14/22- U- 28	n.a./ adult	PBL	n.a.	47,XN,+mar[2]/ 46,XN[18]	min(14 or 22) (:p11.1→q11.1:)	acrocenM subcenM	n.a.	{43} case 14/22-U-28
14/22- U- 29	male/ prenatal	AF	n.a.	47,XY,+mar[16]/ 46,XY[22]	min(14 or 22) (:p11.1→q11.1:)	acrocenM	n.a.	{43} case 14/22-U-29
14/22- U- 30	male/ postnatal	PBL	n.a.	47,XY,+mar[90%]/ 46,XY[10%]	mar(14 or 22)	cep	DD,Short stature (−2.93 SD), poor speech, DYS	{41} case P13

Cases with complex sSMC (Uc)

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
14/22- Uc- 1	female/ 1y	PBL	de novo	47,XX,+mar[9]/ 46,XX[11]	der(14 or 22)t(2;14 or 22)(p11.2;q11.1) aCGH: break p-arm #2 in position 90.9 Mb	different FISH probes; aCGH	global DD, laryngomalacia, severe gastroesophageal reflux, stenotic ear canals and hearing loss	{33} case 4; {36}

Cases with discontinous sSMC (Ud)

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
14/22- Ud- 1-	-	-	-	-	-	-	-	-

Cases with UPD (Uu)

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
14/22- Uu- 1-	-	-	-	-	-	-	-	-