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Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2003 May; Vol. 72 (5), pp. 1200-12. Date of Electronic Publication: 2003 Apr 08. - Publication Year :
- 2003
-
Abstract
- Monosomy 1p36 is the most common terminal deletion syndrome. This contiguous gene deletion syndrome is presumably caused by haploinsufficiency of a number of genes. We have constructed a contig of overlapping large-insert clones for the most distal 10.5 Mb of 1p36, evaluated the deletion sizes in 61 subjects with monosomy 1p36 from 60 families, and created a natural deletion panel. We found pure terminal deletions, interstitial deletions, derivative chromosomes, and more complex rearrangements. Breakpoints were "binned" into 0.5-Mb regions. Analyses revealed some clustering of breakpoints but no single common breakpoint. Determination of the parental origin showed that 60% of de novo 1p36 terminal deletions arose from the maternally inherited chromosome. Of the 61 subjects, 30 were examined systematically through a protocol at the Texas Children's Hospital General Clinical Research Center. Specifically, we report hearing evaluations, palatal and ophthalmological examinations, echocardiograms, neurological assessments, and thyroid function tests. To our knowledge, this systematic molecular and clinical characterization of monosomy 1p36 is the largest and most comprehensive study of this deletion syndrome to date. Many cytogenetically visible, apparent terminal deletions are more complex than anticipated by cytogenetics, as revealed at the molecular level by our study. Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation.
- Subjects :
- Abnormalities, Multiple diagnosis
Adolescent
Child
Child, Preschool
Chromosome Disorders diagnosis
Facies
Female
Gene Deletion
Humans
Infant
Infant, Newborn
Male
Microsatellite Repeats
Monosomy diagnosis
Physical Chromosome Mapping
Syndrome
Abnormalities, Multiple genetics
Chromosome Breakage genetics
Chromosome Disorders genetics
Chromosomes, Human, Pair 1 genetics
Monosomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0002-9297
- Volume :
- 72
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 12687501
- Full Text :
- https://doi.org/10.1086/375179