PMID- 11394378
OWN - NLM
STAT- MEDLINE
DCOM- 20020102
LR  - 20111117
IS  - 0564-3783 (Print)
IS  - 0564-3783 (Linking)
VI  - 34
IP  - 6
DP  - 2000 Nov-Dec
TI  - 16q subtelomeric deletion in proband with congenital malformations and mental 
      retardation.
PG  - 72-4
AB  - We present a female child with mild mental retardation and congenital 
      malformations. After fluorescence in situ hybridization (FISH) we found only 
      abnormal karyotype in all cells. We used rapid FISH and original DNA 
      probes--PAC62.10.1 and PAC20.19.N, specific for segments of chromosome 16q24. 
      Karyotype of proband 46,XX.ish del(16)(q24.2:) (PAC20.19.N,PAC62.10.1-). Parent 
      karyotypes are normal. This case may suggest the presence of clinical picture 
      16q- with defined clinical polymorphism at small telomeric loss, and also its 
      necessary of the use of molecular-cytogenetic techniques in genetic departments.
FAU - Vorsanova, S G
AU  - Vorsanova SG
AD  - Institute of Pediatrics and Children Surgery, Ministry of Health, Moscow.
FAU - Yurov, Y B
AU  - Yurov YB
FAU - Kolotii, A D
AU  - Kolotii AD
FAU - Demidova, I A
AU  - Demidova IA
FAU - Novikova, I M
AU  - Novikova IM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Ukraine
TA  - Tsitol Genet
JT  - TSitologiia i genetika
JID - 0101671
SB  - IM
MH  - Adolescent
MH  - *Chromosomes, Human, Pair 16
MH  - Congenital Abnormalities/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - *Telomere
EDAT- 2001/06/08 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/06/08 10:00
PHST- 2001/06/08 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/06/08 10:00 [entrez]
PST - ppublish
SO  - Tsitol Genet. 2000 Nov-Dec;34(6):72-4.