Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma

Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma

The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subte...

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Veröffentlicht in:Clinical dysmorphology 2003-01, Vol.12 (1), p.35-39
Hauptverfasser: Moog, Ute, Engelen, John J M, van Schrojenstein Lantman-de Valk, Henny M J, Driessen, Sandra D, Fryns, Jean-Pierre
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Adult
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 7
Coloboma - genetics
Gene Deletion
Head - abnormalities
Humans
Intellectual Disability - genetics
Iris - abnormalities
Male
Middle Aged
Siblings
Translocation, Genetic
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Zusammenfassung:The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).
ISSN:0962-8827
DOI:10.1097/00019605-200301000-00006