PMID- 10594874
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 87
IP  - 5
DP  - 1999 Dec 22
TI  - Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.
PG  - 375-83
AB  - Results of repeated peripheral blood chromosome studies were normal in a boy with 
      intrauterine growth retardation, short stature, moderate mental retardation, and 
      multiple minor anomalies. At age 9 years it was recognized that the swirls of 
      pigmentation/depigmentation on his trunk, linear streaks on his limbs, and body 
      asymmetry were suggestive of chromosomal mosaicism. Four skin biopsies were 
      obtained under anesthesia during a dental procedure. All showed mosaicism for a 
      normal cell line, a line with an extra chromosome 7, and a cell line with an 
      extra small ring. In one biopsy, there was a fourth cell line with an extra 
      chromosome 7 and the ring. Fluorescence in situ hybridization (FISH) with a 
      chromosome 7 paint confirmed trisomy 7 and the chromosome 7 derivation of the 
      ring. This young man's intra-uterine and postnatal growth retardation is an 
      aneuploidy effect, whereas his asymmetry reflects a mosaicism effect that should 
      have aroused suspicion of tissue-limited mosaicism before the development of 
      obvious Blaschkolinear skin pigmentary dysplasia.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Magenis, E
AU  - Magenis E
AD  - Department of Molecular and Medical Genetics, Child Development and 
      Rehabilitation Center, Oregon Health Sciences University, Portland, Oregon 
      97201-2998, USA.
FAU - Webb, M J
AU  - Webb MJ
FAU - Spears, B
AU  - Spears B
FAU - Opitz, J M
AU  - Opitz JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 7
MH  - Developmental Disabilities/*genetics
MH  - Diagnosis, Differential
MH  - Growth/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Mosaicism/*genetics
MH  - Muscle Hypotonia/congenital
MH  - Pigmentation Disorders/*genetics
MH  - Syndrome
MH  - *Trisomy
EDAT- 1999/12/14 09:00
MHDA- 2000/03/11 09:00
CRDT- 1999/12/14 09:00
PHST- 1999/12/14 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 1999/12/14 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19991222)87:5<375::AID-AJMG2>3.0.CO;2-W [pii]
AID - 10.1002/(sici)1096-8628(19991222)87:5<375::aid-ajmg2>3.0.co;2-w [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Dec 22;87(5):375-83. doi: 
      10.1002/(sici)1096-8628(19991222)87:5<375::aid-ajmg2>3.0.co;2-w.