A report of three patients with an interstitial deletion of chromosome 15q24.
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.
Cushman
Lisa J
LJ
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, USA.
Torres-Martinez
Wilfredo
W
Cherry
Athena M
AM
Manning
Melanie A
MA
Abdul-Rahman
Omar
O
Anderson
Carol E
CE
Punnett
Hope H
HH
Thurston
Virginia C
VC
Sweeney
Danielle
D
Vance
Gail H
GH
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D015342:DNA Probes / Q000235:genetics; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D000071156:Promyelocytic Leukemia Protein; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
D015342:DNA Probes; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000071156:Promyelocytic Leukemia Protein; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C070576:PML protein, human