PMID- 9545094
OWN - NLM
STAT- MEDLINE
DCOM- 19980521
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 76
IP  - 4
DP  - 1998 Apr 1
TI  - Complex familial rearrangement of chromosome 9p24.3 detected by FISH.
PG  - 306-9
AB  - We describe a newborn male with minor facial anomalies, pyloric stenosis, and a 
      chromosome rearrangement that involves deletion and addition of material at 
      9p24.3. Routine studies showed a 46, XY, add (9) (p24) karyotype. Fluorescence in 
      situ hybridization (FISH) with two different whole chromosome probes for 
      chromosome 9 failed to identify whether the additional material was derived from 
      that chromosome. FISH with single copy YAC probes from 9p24 (D9S1858, D9S1813 and 
      D9S54) showed a more complex rearrangement involving a deletion at D9S1858 but 
      not at D9S1813 or D9S54. Parental chromosome studies demonstrated an apparently 
      identical 9p abnormality in the patient's mother. This report describes a 
      familial chromosome rearrangement in an abnormal child and his normal mother and 
      demonstrates the use and limitations of FISH in characterizing chromosomal 
      abnormalities.
FAU - Repetto, G M
AU  - Repetto GM
AD  - Division of Genetics, Children's Hospital, Harvard Medical School, Boston, 
      Massachusetts 02115, USA.
FAU - Wagstaff, J
AU  - Wagstaff J
FAU - Korf, B R
AU  - Korf BR
FAU - Knoll, J H
AU  - Knoll JH
LA  - eng
GR  - HDI8658/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - *Chromosome Aberrations/*genetics
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - *Chromosome Disorders
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Monosomy
MH  - Pyloric Stenosis
EDAT- 1998/04/17 02:03
MHDA- 2000/06/20 09:00
CRDT- 1998/04/17 02:03
PHST- 1998/04/17 02:03 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/04/17 02:03 [entrez]
AID - 10.1002/(SICI)1096-8628(19980401)76:4<306::AID-AJMG5>3.0.CO;2-N [pii]
PST - ppublish
SO  - Am J Med Genet. 1998 Apr 1;76(4):306-9.