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6q1 monosomy: a distinctive syndrome
Author(s) -
Turleau Catherine,
Demay Gérard,
Cabanis MarieOdille,
Lenoir Gérard,
Grouchy Jean
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb02613.x
Subject(s) - clinodactyly , syndactyly , dermatoglyphics , palpebral fissure , umbilical hernia , medicine , monosomy , anatomy , hypertelorism , blepharophimosis , dermatology , karyotype , biology , hernia , surgery , genetics , chromosome , ptosis , gene
A female infant with a de novo del 6q14q16.2 and five other patients with del 6q1 reported in the literature allow the delineation of a characteristic syndrome, the main features of which are: severe mental retardation, a round face with full cheeks, upslanting palpebral fissures, a short neck, umbilical hernia, malpositioned feet with syndactyly II‐III, and typical dermatoglyphics with an excess of whorls and clinodactyly of the Vth finger.