منابع مشابه
De novo partial trisomy 15q (proximal type).
This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.
متن کاملA third case of de novo partial trisomy 4p.
Interestingly, the previously reported patient with a different but overlapping deletion of chromosome 12 long arm (q13.3-q21.1) and the subject of this report have only a few features in common (table). The deletion in each includes the portion 12q13.3 to q21. 1. It is unclear whether the small difference in the portion of 12q deleted accounts for the fact that they do not resemble each other ...
متن کاملPartial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms
Background: Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations. Methods: Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, an...
متن کاملA case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced par...
متن کاملDe-Novo Presentation of Histoid Leprosy on an Unusual Site
Histoid Leprosy (HL) is a rare variant of Lepromatous Leprosy, occurring in long-standing cases, mostly in a background of acquired drug resistance. Patients usually present with sudden onset multiple nodules and plaques, most often involving the skin and subcutaneous tissue of trunk and lower limbs. Here we report an unusual case of de novo (without any history of prior anti-leprotic therapy) ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Genetics
سال: 1977
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00527412