PMID- 10766985
OWN - NLM
STAT- MEDLINE
DCOM- 20000608
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 91
IP  - 4
DP  - 2000 Apr 10
TI  - Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and 
      review of associated medical complications.
PG  - 286-90
AB  - The authors report on a young girl with generalized developmental deficits 
      originally thought to be caused by an unusual reaction to DPT vaccination. At the 
      age of 4(1/2) years, chromosome analysis showed that the terminus of the short 
      arm of chromosome 9 had extra material believed to originate from 7p terminus, 
      thus she was considered to be trisomic for a segment of 7p and monosomic for a 
      small portion of 9p [46,XX,der (9), t(7;9)(p15;p24)]. Ten years later, molecular 
      cytogenetic testing using fluorescence in situ hybridization (FISH) confirmed 
      that the extra chromosomal material represented partial trisomy 7p. The proposita 
      had a high and large forehead, hypertelorism, and broad nasal bridge, findings 
      seen in most individuals with trisomy 7p. Long-term follow-up showed the presence 
      of hypothyroidism, obesity, and cerebral palsy. A review of all published cases 
      of trisomy 7p with focus on associated complications suggests a well-defined 
      pattern of abnormalities characterized by musculoskeletal, cardiovascular, 
      neurological, genital, and ocular abnormalities in decreasing frequency. At least 
      one-third of affected individuals died in infancy and close to half had severe 
      mental retardation. FISH was essential in the confirmation of the cytogenetic 
      abnormality and further delineation of the chromosomal disorder.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Kozma, C
AU  - Kozma C
AD  - Child Development Center/Department of Pediatrics, Georgetown University Medical 
      Center, Washington, DC 20007-3935, USA. kozmac@gunet.georgetown.edu
FAU - Haddad, B R
AU  - Haddad BR
FAU - Meck, J M
AU  - Meck JM
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  - Adolescent
MH  - Cerebral Palsy/genetics
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Female
MH  - Growth Disorders/diagnostic imaging/genetics
MH  - Humans
MH  - Hypothyroidism/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Obesity/genetics
MH  - Tomography, X-Ray Computed
MH  - Translocation, Genetic/*genetics
MH  - Trisomy/*genetics/pathology
EDAT- 2000/04/15 09:00
MHDA- 2000/06/10 09:00
CRDT- 2000/04/15 09:00
PHST- 2000/04/15 09:00 [pubmed]
PHST- 2000/06/10 09:00 [medline]
PHST- 2000/04/15 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000410)91:4<286::AID-AJMG9>3.0.CO;2-2 [pii]
AID - 10.1002/(sici)1096-8628(20000410)91:4<286::aid-ajmg9>3.0.co;2-2 [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Apr 10;91(4):286-90. doi: 
      10.1002/(sici)1096-8628(20000410)91:4<286::aid-ajmg9>3.0.co;2-2.