Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
نویسندگان
چکیده
منابع مشابه
New microdeletion and microduplication syndromes: A comprehensive review
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that ha...
متن کاملMicrodeletion and microduplication syndromes.
The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the cur...
متن کامل2q31.1 microdeletion syndrome: case report and literature review
We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1.
متن کاملMcCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کاملProliferating Pilomatricoma: A Case Report and Review of Literature
Proliferating pilomatricoma is a distinctive rare variant of pilomatricoma first described in 1997.Very few cases of proliferating pilomatricoma have been reported in the literature until date. This report is a case of 65 years old male presenting with hard nodular lump on the right side of neck slowly increasing in size for the last 8 months. Wide excision of the lump was performed with clear ...
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: Molecular Cytogenetics
سال: 2017
ISSN: 1755-8166
DOI: 10.1186/s13039-017-0326-4