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Distal trisomy 17q.

C Turleau·J de Grouchy·J P Bouveret
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Abstract

A 3-year-old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low-set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syndrome.

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Abnormalities, MultipleChromosomes, Human, 16-18Chromosomes, Human, 4-5DermatoglyphicsHumansInfant, NewbornIntellectual DisabilityMaleSyndromeTranslocation, GeneticTrisomyCase ReportsJournal Article

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BibTeXRIS

C Turleau, J de Grouchy, J P Bouveret. 1979. Distal trisomy 17q.. https://doi.org/10.1111/j.1399-0004.1979.tb00849.x

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