ChromosOmics - Database

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                                                  -  CHROMOSOME #13 -                                                 
ABNORMAL
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
13-
W-
q11/
1-1 		male/
6y 		skin de novo in skin (Ito): 46,XY[50%]/
46,XY,del(13)(q11)[50%]		 cep 13/21 DD, Dys, Ito-lines on skin {0} provided from Germany
13-
W-
q12.12/
1-1 		female/
postnatal 		PBL? n.a. 47,XX,+mar[100%]
min(13)(pter→q12.12:) 		aCGH abnormal {43} case 27105
***
13-
W-
q12.12/
1-2
°°°
 female/
11y 		PBL? n.a. 47,XX,+mar[100%] min(13)(pter→q12.12:)
aCGH: break in 22.29 MB 		different FISH-probes; aCGH Agenesis of the corpus callosum, scoliosis, sleep apnea, obesity {50} case 8
13-
W-
q13.1/
1-1
 		male/
3y 		PBL n.a. 47,XX,+mar[6]/
46,XX[19]
 		del(13)(q13.11)
aCGH: break in 33,13 MB 		 aCGH, FSH DD, ASD {63}
13-
W-
q13.2/
1-1
°°°
 n.a./
prenatal 		AF de novo 47,+mar[100%] mar(13)(pter→q13.2:)*
size ~14MB = position 32.40 		n.a.; subcenM with 3 BACs see below {24} case 14
Multiple anomalies noted on prenatal ultrasound, including diaphragmatic hernia, open neural tube defect, micromelia, abnormal skull, and single umbilical artery; pregnancy terminated.
13-
W-
q14/
1-1
 		female/
newborn 		PBL
 de novo
 47,XX,+mar[100%] del(13)(q14)
n.a. cleft palate, coloboma; slight DYS, growth delay; MR, DD {67}
13-
W-
q14.11/
1-1
 		male/
prenatal 		umbilical cord blood
 de novo
 47,XX,+mar[100%] r(13)(::p1?2→q14.11:
:q14.11→p1?2::)*
aCGH: break in 43.27 MB (hg19) 		different FISH-probes; aCGH NIPT indicates +13 in placenta; in sonography heart defect; IUGR; TOP {61}

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

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
13-
W-
IMB-
q12/
1-1 to
1-5
°°°
 female and male/
postnatal 		PBL maternal (balanced translocations) der(13)t(13;div. chrs.)(q12;div. breakpoints) n.a. see below {33-37}
reviewed in {38}
features in common: short stature, microcephaly, dysplastic ears, strabismus, epicanthic folds, down slanting palpebral fissures, short mandible, mental retardation form mild to severe.
13-
W-
IMB-
q13/
1-1 to
1-2
°°°
 female and male/
postnatal 		PBL maternal (balanced translocations) der(13)t(13;div. chrs.)(q13;div. breakpoints) n.a. similar to 13-W-IMB-q12 cases {37; 39}
reviewed in {38}

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
13-
 W-
 1
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