PMID- 22302515
OWN - NLM
STAT- MEDLINE
DCOM- 20120604
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 158A
IP  - 3
DP  - 2012 Mar
TI  - First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally 
      and characterized with array CGH in a fetus with an isolated short femur.
PG  - 617-21
LID - 10.1002/ajmg.a.34416 [doi]
AB  - We report on a fetus with an isolated short femur detected by ultrasound and a de 
      novo interstitial deletion of chromosome 15. The deletion was diagnosed 
      prenatally by karyotype and further mapped by fluorescence in situ hybridization 
      (FISH) and array comparative genomic hybridization (array-CGH) to bands 15q15.3 
      to 15q21.3 with a size of 11.11 Mb. Fetal autopsy showed characteristic minor 
      anomalies, urinary abnormalities, and delayed bone maturation, but neither 
      craniosynostosis, nor congenital heart defects as observed in previously reported 
      cases. Despite the existence of ultrasound abnormalities, all five cases reported 
      so far were diagnosed after birth. This is the first case of an interstitial 
      deletion involving chromosomal band 15q15.3-q21.3 diagnosed prenatally and 
      characterized at the molecular level. Our observation suggests the absence of 
      imprinted genes in the area of 15q15-q22 and strengthens the hypothesis that a 
      critical region for craniosynostosis may be mapped outside the deleted region in 
      the present patient.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Abdelhedi, Fatma
AU  - Abdelhedi F
AD  - Groupe Hospitalier Cochin, Broca, Hotel Dieu, APHP-Laboratoire de Cytogenetique, 
      Paris, France. abdelhedi_f@yahoo.fr
FAU - Corcos, Johanna
AU  - Corcos J
FAU - Cuisset, Laurence
AU  - Cuisset L
FAU - Tsatsaris, Vassilis
AU  - Tsatsaris V
FAU - Tantau, Julia
AU  - Tantau J
FAU - Le Tessier, Dominique
AU  - Le Tessier D
FAU - Lebbar, Aziza
AU  - Lebbar A
FAU - Dupont, Jean-Michel
AU  - Dupont JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120202
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 15
MH  - Comparative Genomic Hybridization
MH  - Fatal Outcome
MH  - Female
MH  - Femur/*abnormalities/embryology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2012/02/04 06:00
MHDA- 2012/06/05 06:00
CRDT- 2012/02/04 06:00
PHST- 2011/08/01 00:00 [received]
PHST- 2011/11/11 00:00 [accepted]
PHST- 2012/02/04 06:00 [entrez]
PHST- 2012/02/04 06:00 [pubmed]
PHST- 2012/06/05 06:00 [medline]
AID - 10.1002/ajmg.a.34416 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2012 Mar;158A(3):617-21. doi: 10.1002/ajmg.a.34416. Epub 2012 
      Feb 2.