Partial trisomy 4q: a case report
نویسندگان
چکیده
منابع مشابه
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...
متن کاملPartial 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...
متن کاملPartial trisomy 12q: report of a case and review.
A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 lea...
متن کاملPartial 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...
متن کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2006
ISSN: 0366-6999
DOI: 10.1097/00029330-200607010-00017