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Related Experiment Videos

Monosomy 1p36.

A Slavotinek1, L G Shaffer, S K Shapira

  • 1University Department of Medical Genetics, St Mary's Hospital, Manchester, UK.

Journal of Medical Genetics
|October 3, 1999
PubMed
Summary
This summary is machine-generated.

Segmental aneusomy for chromosome 1p36, a contiguous gene deletion syndrome, presents with severe developmental delay, growth issues, and distinct facial features. Geneticists can recognize this emerging syndrome through characteristic clinical findings and cytogenetic confirmation.

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Area of Science:

  • Genetics
  • Clinical Genetics
  • Developmental Biology

Background:

  • Segmental aneusomy for chromosome 1p36 is an emerging chromosomal syndrome.
  • Terminal deletions of chromosome 1p36 are associated with a recognizable pattern of clinical features.

Purpose of the Study:

  • To aid geneticists and health professionals in recognizing segmental aneusomy for chromosome 1p36.
  • To consolidate and present the key clinical and genetic features of this syndrome.

Main Methods:

  • Review of published patient reports.
  • Analysis of clinical manifestations and genetic findings.

Main Results:

  • Key features include severe hypotonia, developmental delay, growth abnormalities (retardation, microcephaly, obesity), and craniofacial dysmorphism (large anterior fontanelle, prominent forehead, deep-set eyes, flat nasal bridge, midface hypoplasia, ear asymmetry, pointed chin, orofacial clefting).

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  • Common additional findings include cardiac malformations, cardiomyopathy, seizures, ventricular dilatation, sensorineural hearing loss, and ophthalmological anomalies.
  • High-resolution cytogenetic studies can detect deletions, but fluorescence in situ hybridization (FISH) is often required for confirmation. Most deletions are maternally derived.

    • Conclusions:

    • Segmental aneusomy for chromosome 1p36 is likely a contiguous gene deletion syndrome.
    • Recognition relies on identifying the characteristic constellation of clinical features and utilizing appropriate genetic testing.
    • Further molecular characterization is ongoing and crucial for understanding the syndrome's genetic basis.