2q35qter duplication syndrome: phenotypic definition

Two sibs with multiple congenital anomalies and severe mental retardation were found to have a 2q35qter duplication as a result of a balanced maternal translocation. The clinical features of our two cases are compared with those reported in literature as having either a 2q35qter duplication or a wid...

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Bibliographic Details
Published inGenetic counseling Vol. 8; no. 4; p. 327
Main Authors Grammatico, P, Di Rosa, C, Rinaldi, R, Roccella, M, Cupilari, F, Sbezzi, T, Del Porto, G
Format Journal Article
LanguageEnglish
Published Switzerland 1997
Subjects
Abnormalities, Multiple - genetics
Child
Child, Preschool
Chromosomes, Human, Pair 2 - genetics
Female
Humans
Intellectual Disability - genetics
Male
Pedigree
Phenotype
Trisomy
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Summary:Two sibs with multiple congenital anomalies and severe mental retardation were found to have a 2q35qter duplication as a result of a balanced maternal translocation. The clinical features of our two cases are compared with those reported in literature as having either a 2q35qter duplication or a wider duplicated segment without the involvement of any other chromosome deletion or duplication. The typical phenotype is described considering the characteristic clinical features as: hypotonia, hypertelorism, short and beaked nose, flat nasal bridge, thin upper lip, micrognathia, low set and dysmorphic ears, clinodactyly finger V and cryptorchidism.
ISSN:1015-8146