Novel ocular findings with 5p deletion and partial trisomy of distal 4q

Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.

OBJECTIVE To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous interstitial duplication 4q. DESIGN Case report. SETTING Movement Disorder Outpatient Clinic at the University Hospital Centre, Liège, Belgium. PATIENT A 31-year-old woman. MAIN OUTCOME MEASURES Clinical, neuroimaging, and genetic data. RESULTS The duplicated regi...

Endocrine abnormalities in a patient with partial trisomy 4q.

Partial trisomy of the long arm of chromosome 4, usually resulting from a familial segregation of a balanced translocation, has been described in a number of patients. This report describes the genetic and endocrine findings in a 16 year old 46,XY,12q+ mentally retarded male. The banding pattern of the extra chromatin material from this de novo unbalanced translocation shows that the distal seg...

Sonographic Findings in Partial Type of Trisomy 18

Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.

Partial trisomy distal 4q (denoted 4q+) is a human chromosomal disorder caused by duplication of the distal end of the long arm of chromosome 4 (Chr4). This disorder manifests typical phenotypes, including craniofacial, renal, heart and thumb developmental defects. Although these clinical features are likely caused by a dosage imbalance in the gene network involving the trisomic region, the cau...

Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3).

Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific...