PMID- 16007617
OWN - NLM
STAT- MEDLINE
DCOM- 20050822
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 137
IP  - 1
DP  - 2005 Aug 15
TI  - A report of three patients with an interstitial deletion of chromosome 15q24.
PG  - 65-71
AB  - Partial monosomy of the q2 region of chromosome 15 has been infrequently 
      reported. Moreover, interstitial deletions involving 15q22-q24 have been 
      described in only nine patients to date. The phenotype of these reported 
      individuals is subject to the extent of the deletion but typically includes 
      altered muscle tone and significant developmental delays. In addition, eye 
      abnormalities, such as strabismus, microphthalmia, or colobomas, ear 
      abnormalities including cleft earlobe and preauricular tags, and urogenital 
      defects are common features. Congenital heart defects, diaphragmatic hernia, 
      abnormalities of the central nervous system, and skeletal anomalies have been 
      reported but appear to be less frequent clinical manifestations. In this report, 
      we describe three new patients with interstitial deletions involving 15q24, two 
      with cryptic deletions identified by fluorescence in situ hybridization (FISH) 
      with a probe for the PML gene and one with a cytogenetically visible deletion of 
      15q22.3-q24. The clinical presentation of these individuals is similar to those 
      previously described and includes global developmental delays, hypotonia, and 
      genital abnormalities in the males. The identification of these three cases 
      demonstrates that the above clinical features are associated with a new 
      cytogenetic deletion syndrome. Furthermore, we suggest that FISH analysis with a 
      probe for the PML gene be performed in patients with these physical findings.
CI  - Copyright 2005 Wiley-Liss, Inc.
FAU - Cushman, Lisa J
AU  - Cushman LJ
AD  - Department of Medical and Molecular Genetics, Indiana University School of 
      Medicine, Indianapolis, 46202, USA.
FAU - Torres-Martinez, Wilfredo
AU  - Torres-Martinez W
FAU - Cherry, Athena M
AU  - Cherry AM
FAU - Manning, Melanie A
AU  - Manning MA
FAU - Abdul-Rahman, Omar
AU  - Abdul-Rahman O
FAU - Anderson, Carol E
AU  - Anderson CE
FAU - Punnett, Hope H
AU  - Punnett HH
FAU - Thurston, Virginia C
AU  - Thurston VC
FAU - Sweeney, Danielle
AU  - Sweeney D
FAU - Vance, Gail H
AU  - Vance GH
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DNA Probes)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Promyelocytic Leukemia Protein)
RN  - 0 (Transcription Factors)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 143220-95-5 (PML protein, human)
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Child
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - DNA Probes/genetics
MH  - Developmental Disabilities/pathology
MH  - Female
MH  - Genitalia, Male/abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Muscle Hypotonia/pathology
MH  - Neoplasm Proteins/genetics
MH  - Nuclear Proteins/genetics
MH  - Promyelocytic Leukemia Protein
MH  - Transcription Factors/genetics
MH  - Tumor Suppressor Proteins/genetics
RF  - 29
EDAT- 2005/07/12 09:00
MHDA- 2005/08/23 09:00
CRDT- 2005/07/12 09:00
PHST- 2005/07/12 09:00 [pubmed]
PHST- 2005/08/23 09:00 [medline]
PHST- 2005/07/12 09:00 [entrez]
AID - 10.1002/ajmg.a.30836 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Aug 15;137(1):65-71. doi: 10.1002/ajmg.a.30836.