PMID- 16470790
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 5
DP  - 2006 Mar 1
TI  - Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 
      and its phenotypic consequences.
PG  - 496-502
AB  - We report a 2(3/12)-year-old boy with a constitutional interstitial deletion of 
      5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient 
      included failure to thrive, psychomotor retardation, mild facial dysmorphic 
      features, and long and slender fingers and toes. The precise location and extent 
      (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization 
      (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six 
      other patients with deletions of chromosomal bands 5q22-5q31 allowed further 
      delineation of a constitutional del5q22q31 syndrome. The main features of this 
      syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic 
      muscles, cleft or high arched palate, low-set and dysplastic ears, flat nasal 
      bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and 
      micro- and/or retrognathia.
FAU - Tzschach, Andreas
AU  - Tzschach A
AD  - Max Planck Institute for Molecular Genetics, Berlin, Germany. 
      tzschach@molgen.mpg.de
FAU - Krause-Plonka, Ines
AU  - Krause-Plonka I
FAU - Menzel, Corinna
AU  - Menzel C
FAU - Kalscheuer, Vera
AU  - Kalscheuer V
FAU - Toennies, Holger
AU  - Toennies H
FAU - Scherthan, Harry
AU  - Scherthan H
FAU - Knoblauch, Andreas
AU  - Knoblauch A
FAU - Radke, Michael
AU  - Radke M
FAU - Ropers, Hans-Hilger
AU  - Ropers HH
FAU - Hoeltzenbein, Maria
AU  - Hoeltzenbein M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Developmental Disabilities/pathology
MH  - Ear/abnormalities
MH  - Face/abnormalities
MH  - Failure to Thrive/pathology
MH  - Feeding and Eating Disorders of Childhood/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Phenotype
EDAT- 2006/02/14 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/02/14 09:00
PHST- 2006/02/14 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/02/14 09:00 [entrez]
AID - 10.1002/ajmg.a.31105 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Mar 1;140(5):496-502. doi: 10.1002/ajmg.a.31105.