Partial trisomy 4p and Brachmann-de Lange syndrome

Fryns, Jean-Pierre

doi:10.1002/1096-8628(20001211)95:4<406::aid-ajmg22>3.0.co;2-7

Cited by 2 publications

(1 citation statement)

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“…The dysmorphic features are subtle in this pure 4p trisomy, with a mildly bulbous nose, mild retrognathia, short philtrum, and fifth finger clinodactyly. No clinical features of the proband suggested Brachmann–de Lange syndrome, sometimes associated with trisomy 4p [Fryns, 2000; Mau et al, 2000]. Contrary to the 4p− syndrome, which is frequently associated with epilepsy, and in some cases West syndrome [Kanazawa et al, 1991], trisomy 4p is not described as a syndrome with seizures as a component.…”

Section: Discussionmentioning

confidence: 99%

Classical West “syndrome” phenotype with a subtelomeric 4p trisomy

Gérard-Blanluet

Romana

Munier

et al. 2004

American J of Med Genetics Pt A

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We report a girl with mild mental retardation with onset of infantile spasms at age of 9 months. Treatment with a short course of adrenocorticotropic hormone (ACTH) was successful. Initially, a diagnosis of idiopathic West syndrome, with good neurological outcome and disappearance of epilepsy after treatment, was made. Conventional karyotype was normal. Reinvestigations were done at age 8 years, because of a new pregnancy. Karyotyping of both parents was done because of mild dysmorphic features in the proband, and to eliminate other causes than early age epilepsy as the etiology of her mental retardation. Parental karyotypes showed a balanced paternal translocation (4p;17q) resulting in partial 4p trisomy, without significant 17q monosomy in the proband. Chromosomal abnormalities usually lead to a severe West syndrome with poor prognosis of neurological outcome (persistent severe epilepsy, mental retardation, and behavioral disturbances). The presence of an undetected cytogenetic anomaly in our proband with transient hypsarythmia is unusual and led us to propose systematic telomeric screening in apparently "idiopathic" West syndrome patients with mild mental retardation and subtle dysmorphic features.

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Section: Discussionmentioning

confidence: 99%