PMID- 7856666
OWN - NLM
STAT- MEDLINE
DCOM- 19950310
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 53
IP  - 3
DP  - 1994 Nov 15
TI  - 18q- and 18q+ mosaicism in a mentally retarded boy.
PG  - 296-9
AB  - A mentally retarded boy was found to have an unusual chromosomal mosaicism 
      [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations 
      are compatible with the 18q- syndrome. The chromosome alteration was defined by 
      high resolution banding and fluorescence in situ hybridization (FISH). A 
      mechanism to explain the origin of the two cell lines is presented and discussed.
FAU - Ausems, M G
AU  - Ausems MG
AD  - Clinical Genetics Center Utrecht, The Netherlands.
FAU - Bhola, S L
AU  - Bhola SL
FAU - Post-Blok, C A
AU  - Post-Blok CA
FAU - Hennekam, R C
AU  - Hennekam RC
FAU - de France, H F
AU  - de France HF
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  - Child, Preschool
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 18
MH  - Dwarfism/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - *Mosaicism
MH  - Respiratory Tract Infections/genetics
MH  - Sister Chromatid Exchange
EDAT- 1994/11/15 00:00
MHDA- 1994/11/15 00:01
CRDT- 1994/11/15 00:00
PHST- 1994/11/15 00:00 [pubmed]
PHST- 1994/11/15 00:01 [medline]
PHST- 1994/11/15 00:00 [entrez]
AID - 10.1002/ajmg.1320530317 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Nov 15;53(3):296-9. doi: 10.1002/ajmg.1320530317.