Literature DB >> 1240777

Acrocephalosyndactyly and partial trisomy 6.

K P Robertson, T F Thurmon, M C Tracy.   

Abstract

A partial trisomy of the long arm of chromosome 6 was found in an infant with acrocephalosyndactyly (not Apert acrocephalosyndactyly). The mother had a balanced translocation involving the long arms of chromosomes 6 and 10. Other reports of similar aberrations are reviewed.

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Mesh:

Year:  1975        PMID: 1240777

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  2 in total

Review 1.  Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Authors:  E K Pivnick; M B Qumsiyeh; A T Tharapel; J B Summitt; R S Wilroy
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.

Authors:  W Schmid; V D'Apuzzo; E Rossi
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

  2 in total

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