PMID- 22407767
OWN - NLM
STAT- MEDLINE
DCOM- 20120730
LR  - 20220331
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 158A
IP  - 4
DP  - 2012 Apr
TI  - Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and 
      array-CGH in three related patients.
PG  - 869-76
LID - 10.1002/ajmg.a.35236 [doi]
AB  - Cryptic subtelomeric chromosomal aberrations are responsible for 5-10% of 
      moderate/severe and 1% of mild intellectual disability. Unbalanced subtelomeric 
      chromosomal rearrangements result in variable phenotypes which seem to be highly 
      influenced by both the size of the duplication/deletion and the chromosomes 
      involved in the translocation. We report on three related patients with moderate 
      intellectual disability, language delay, hypotonia, facial dysmorphism, cardiac 
      anomalies, scoliosis, and kyphosis in whom a familial (maternal) unbalanced 
      submicroscopic translocation was found by subtelomeric fluorescence in situ 
      hybridization (FISH). This rearrangement resulted in a partial trisomy 10pter and 
      partial monosomy 21qter. The karyotype was 46,XY.ish der(21)t(10;21)(p14;q22.2). 
      Confirmation of a 6.7 Mb size distal duplication of the p15.3-14 region of 
      chromosome 10 and a 5.6 Mb distal deletion of the q22.2-22.3 region of chromosome 
      21 was obtained by array-CGH. To our best knowledge, such a composition of 
      subtelomeric unbalanced translocations has not yet been published. Detection of 
      this aberration in successive pregnancies of carrier members of the family by 
      prenatal FISH could prevent the recurrence of the disease. Furthermore, detection 
      of the rearrangements and identification of genes located in the chromosomal 
      regions involved might be of interest.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Szabo, Gabriella P
AU  - Szabo GP
AD  - Pediatrics Institute, University of Debrecen, Medical and Health Science Center, 
      Debrecen, Hungary. gabsza@med.unideb.hu
FAU - Knegt, Alida C
AU  - Knegt AC
FAU - Ujfalusi, Aniko
AU  - Ujfalusi A
FAU - Balogh, Erzsebet
AU  - Balogh E
FAU - Szabo, Tamas
AU  - Szabo T
FAU - Olah, Eva
AU  - Olah E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120309
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Chromosome 10, trisomy 10p
RN  - Chromosome 21 monosomy
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 10/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Comparative Genomic Hybridization
MH  - Facies
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Karyotype
MH  - Kyphosis/genetics
MH  - Language Development Disorders/genetics
MH  - Male
MH  - Monosomy/*genetics
MH  - Muscle Hypotonia/genetics
MH  - Scoliosis/genetics
MH  - Trisomy/*genetics
MH  - Young Adult
EDAT- 2012/03/13 06:00
MHDA- 2012/07/31 06:00
CRDT- 2012/03/13 06:00
PHST- 2011/05/14 00:00 [received]
PHST- 2011/12/30 00:00 [accepted]
PHST- 2012/03/13 06:00 [entrez]
PHST- 2012/03/13 06:00 [pubmed]
PHST- 2012/07/31 06:00 [medline]
AID - 10.1002/ajmg.a.35236 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 
      Mar 9.