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Human Genetics

, Volume 57, Issue 2, pp 210–213 | Cite as

Partial monosomy 7q syndrome due to distal interstitial deletion

  • Richard Stallard
  • Richard C. Juberg
Clinical Case Reports

Summary

A female infant was ascertained at 10 weeks because of failure to thrive and a peculiar cry and was found to have few morphologic variants. Her karyotype was 46,XX,del(7)(q3105: :q3405). The parental karyotypes were normal. At one year she manifested physical retardation and development delay and required surgery for gastroesophageal incompetence. The phenotypic characteristics of this patient and those of six previously reported cases of 7q medial or distal interstitial deletion include many anomalies. Morphologic abnormalities of the head, ears, eyes, mouth, chest, hands, feet, and nerves combined with characteristics of birth weight, growth, and development define a detectable syndrome. An unusual cry may help in the recognition of this new syndrome.

Keywords

Internal Medicine Birth Weight Metabolic Disease Morphologic Variant Phenotypic Characteristic 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • Richard Stallard
    • 1
  • Richard C. Juberg
    • 1
    • 2
  1. 1.Department of Medical Genetics and Birth DefectsChildren's Medical Center, One Children's PlazaDaytonUSA
  2. 2.Department of PediatricsWright State University School of Medicine, One Children's PlazaDaytonUSA

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