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Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27)
Author(s) -
Chen Harold,
Tyrkus Michael,
Cohen Flossie,
Woolley Paul V.,
Mayeda Kaz,
Bhogaonker Anant,
Espiritu Ceres E.,
Simpson William
Publication year - 1976
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.1399-0004.1976.tb01625.x
Subject(s) - microcephaly , hypertelorism , chin , anatomy , macroglossia , medicine , clinodactyly , trisomy , philtrum , biology , genetics , pediatrics , pathology , tongue , upper lip
Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6)(q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.