PMID- 12868477
OWN - NLM
STAT- MEDLINE
DCOM- 20031224
LR  - 20191107
IS  - 0962-8827 (Print)
IS  - 0962-8827 (Linking)
VI  - 12
IP  - 2
DP  - 2003 Apr
TI  - Multicolor chromosomal bar coding characterizes a de novo interstitial deletion 
      (5)(q33.3q35.2) in a child with multiple congenital malformations.
PG  - 129-31
AB  - We describe a boy with multiple congenital anomalies including a complex heart 
      defect, club feet, adducted thumbs, and facial dysmorphic features. He died at 
      the age of 2 months following cardiac surgery. G-banding analysis identified an 
      abnormal chromosome 5q suspected to be an interstitial deletion (5)(q33q35). 
      Breakpoints of the deleted segment were confirmed as del(5)(q33.3q35) by 
      multicolor fluorescence in situ hybridization (FISH) using two sets of 
      combinatorially labeled band specific YAC clones. Findings are discussed in view 
      of previously published cases.
FAU - Schiffer, Christiane
AU  - Schiffer C
AD  - Institute of Human Genetics, University of Heidelberg, Germany.
FAU - Popp, Susanne
AU  - Popp S
FAU - Moshir, Sharareh
AU  - Moshir S
FAU - Rupprath, Gerhard
AU  - Rupprath G
FAU - Dungfelder, Elke
AU  - Dungfelder E
FAU - Hager, Hans-Dieter
AU  - Hager HD
FAU - Tariverdian, Gholamali
AU  - Tariverdian G
FAU - Jauch, Anna
AU  - Jauch A
LA  - eng
PT  - Journal Article
PL  - England
TA  - Clin Dysmorphol
JT  - Clinical dysmorphology
JID - 9207893
SB  - IM
MH  - Abnormalities, Multiple/*genetics/physiopathology
MH  - *Chromosome Deletion
MH  - Chromosome Painting
MH  - *Chromosomes, Human, Pair 5
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
EDAT- 2003/07/19 05:00
MHDA- 2003/12/25 05:00
CRDT- 2003/07/19 05:00
PHST- 2003/07/19 05:00 [pubmed]
PHST- 2003/12/25 05:00 [medline]
PHST- 2003/07/19 05:00 [entrez]
AID - 10.1097/00019605-200304000-00011 [doi]
PST - ppublish
SO  - Clin Dysmorphol. 2003 Apr;12(2):129-31. doi: 10.1097/00019605-200304000-00011.