PMID- 10766997
OWN - NLM
STAT- MEDLINE
DCOM- 20000512
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 91
IP  - 5
DP  - 2000 Apr 24
TI  - Newborn infant with inherited ring and de novo interstitial deletion on 
      homologous chromosome 22s.
PG  - 351-4
AB  - A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based 
      on microcephaly, short and narrow palpebral fissures, a prominent nose with 
      hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an 
      imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis 
      identified a ring 22, while fluorescence in situ hybridization (FISH) for the 
      DiGeorge syndrome critical region identified a 22q deletion on the other 
      homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish 
      del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally 
      retarded range. The father's karyotype was normal whereas the mother had the ring 
      22 that was inherited by her son. This is the first case reported for 
      abnormalities on both 22 homologues.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Wenger, S L
AU  - Wenger SL
AD  - Department of Pathology, West Virginia University, Morgantown, West Virginia, 
      USA.
FAU - Boone, L Y
AU  - Boone LY
FAU - Cummins, J H
AU  - Cummins JH
FAU - Del Vecchio, M A
AU  - Del Vecchio MA
FAU - Bay, C A
AU  - Bay CA
FAU - Hummel, M
AU  - Hummel M
FAU - Mowery-Rushton, P A
AU  - Mowery-Rushton PA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Anus, Imperforate
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Face/abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - *Ring Chromosomes
MH  - Syndrome
EDAT- 2000/04/15 09:00
MHDA- 2000/05/20 09:00
CRDT- 2000/04/15 09:00
PHST- 2000/04/15 09:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 2000/04/15 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000424)91:5<351::AID-AJMG6>3.0.CO;2-A [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Apr 24;91(5):351-4.