Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).
نویسندگان
چکیده
منابع مشابه
Interstitial Deletion of Chromosome 10 with Microgenitalia and Gynecomastia
We describe an 18 year old male with an interstitial development. This was characterized by dysplasia of the genital organs, absence of axillary hair and sparse pubic hair and a female like physique with bilateral gynaecomastia. Other clinical findings included severe mental retardation and minor anomalies , both of which were consistent with other reports. A review of the literature revealed 1...
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We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with other 7q interstitial deletions are listed.
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RATIONALE To date, >40 cases have been described with interstitial deletions involving the 4p15 region. PATIENT CONCERNS AND DIAGNOSIS We report a case of a 3-year-old boy with an interstitial de novo deletion of approximately 13.34 Mb in 4p15.1-15.31 having mild developmental delay and multiple minor congenital abnormalities. LESSONS This case presents a clinical manifestation that is simi...
متن کاملInterstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as c...
متن کاملMild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
We report on a 21 month old child referred to us because of facial dysmorphism and psychomotor retardation. The patient's phenotype was characterised by a wide and receding forehead, broad nasal bridge, redundant retronuchal skin, low set and poorly shaped ears, micrognathia, and small hands and feet. High resolution R and G banding karyotype analysis of peripheral blood lymphocytes showed an i...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.1.62