PMID- 8779331
OWN - NLM
STAT- MEDLINE
DCOM- 19960919
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 62
IP  - 1
DP  - 1996 Mar 1
TI  - Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may 
      be associated with congenital heart defect and mental retardation.
PG  - 77-83
AB  - We describe the clinical manifestations and molecular cytogenetic analyses of 
      three patients with a similar distal deletion of chromosome 8. Each child had 
      mild developmental delay and subtle minor anomalies. Two had cardiac anomalies 
      but no other major congenital anomalies were present. High resolution G and R 
      banding showed in all three patients del(8)(p23.1), but the breakpoint in case 1 
      was distal to 8p23.1, in case 2 was in the middle of 8p23.1, and in case 3 
      proximal to 8p23.1. Fluorescence in situ hybridization (FISH) studies with a 
      chromosome 8 paint probe confirmed that no other rearrangement had occurred. FISH 
      with a chromosome 8-specific telomere probe indicated that two patients had 
      terminal deletions. Chromosome analysis of the parents of case 1 and mother of 
      case 2 were normal; the remaining parents were not available for study. Thirteen 
      individual patients including the three in this study, and three relatives in one 
      family with del(8)(p23.1), have been reported in the past 5 years. Major 
      congenital anomalies, especially congenital heart defects, are most often 
      associated with a breakpoint proximal to 8p23.1. Three patients were found within 
      a 3-year period in this study and five cases were found within 4 years by another 
      group, indicating that distal 8p deletion might be a relatively common 
      chromosomal abnormality. This small deletion is easily overlooked (i.e., cases 1 
      and 2 were reported as normal at amniocentesis) and can be associated with few or 
      no major congenital anomalies.
FAU - Wu, B L
AU  - Wu BL
AD  - Division of Genetics, Children's Hospital, Harvard Medical School, Boston, MA 
      02115, USA.
FAU - Schneider, G H
AU  - Schneider GH
FAU - Sabatino, D E
AU  - Sabatino DE
FAU - Bozovic, L Z
AU  - Bozovic LZ
FAU - Cao, B
AU  - Cao B
FAU - Korf, B R
AU  - Korf BR
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
CIN - Am J Med Genet. 1999 Jan 1;82(1):91-3. PMID: 9916851
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Heart Defects, Congenital/complications/*genetics
MH  - Humans
MH  - Intellectual Disability/complications/*genetics
MH  - Male
MH  - Pregnancy
MH  - Speech Disorders/complications
EDAT- 1996/03/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/03/01 00:00
PHST- 1996/03/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/03/01 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S [pii]
AID - 10.1002/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Mar 1;62(1):77-83. doi: 
      10.1002/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S.