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Trisomy 8 syndrome
Author(s) -
Theilgaard Alice,
Lundsteen Cales,
Parving HansHenrik,
Philip John
Publication year - 1977
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.1399-0004.1977.tb00931.x
Subject(s) - camptodactyly , spina bifida , trisomy , scoliosis , anatomy , psychology , wechsler adult intelligence scale , medicine , cognition , biology , genetics , pediatrics , neuroscience
A 27‐year‐old, non‐retarded male with trisomy 8 mosaicism (46, XY/47, XY,+8) had a short head, a short broad‐bridged nose, a protruding upper lip, pterygium colli, moderate kypho‐scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radio‐graphic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self‐confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.