PMID- 7528972
OWN - NLM
STAT- MEDLINE
DCOM- 19950131
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 52
IP  - 3
DP  - 1994 Sep 1
TI  - 10p duplication characterized by fluorescence in situ hybridization.
PG  - 315-8
AB  - We describe a patient with severe failure to thrive, mild-moderate developmental 
      delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis 
      documented a de novo chromosome rearrangement involving chromosome 4, but the 
      origin of the derived material was unknown. Using chromosome specific painting 
      probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). 
      Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) 
      analysis provides another example of the usefulness of this technology in 
      identifying small deletions, duplications, or supernumerary marker chromosomes.
FAU - Wiktor, A
AU  - Wiktor A
AD  - Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 
      48202.
FAU - Feldman, G L
AU  - Feldman GL
FAU - Kratkoczki, P
AU  - Kratkoczki P
FAU - Ditmars, D M Jr
AU  - Ditmars DM Jr
FAU - Van Dyke, D L
AU  - Van Dyke DL
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
MH  - *Chromosomes, Human, Pair 10/ultrastructure
MH  - Chromosomes, Human, Pair 4/ultrastructure
MH  - Cleft Lip/genetics
MH  - Cleft Palate/genetics
MH  - Developmental Disabilities/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Prognosis
MH  - Translocation, Genetic
EDAT- 1994/09/01 00:00
MHDA- 2001/03/28 10:01
CRDT- 1994/09/01 00:00
PHST- 1994/09/01 00:00 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1994/09/01 00:00 [entrez]
AID - 10.1002/ajmg.1320520312 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Sep 1;52(3):315-8. doi: 10.1002/ajmg.1320520312.