De novo partial monosomy 21 with unusual karyotype
نویسندگان
چکیده
منابع مشابه
De-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 کاملCongenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter)
This study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis on a fetus diagnosed with congenital hydrocephalus and hemivertebrae. The deletion, spanning 10.0...
متن کاملDe novo case of a partial trisomy 4p and a partial monosomy 8p.
The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1-->4pter and a deletion of a chromosomal segment 8p23.1-->8pter. His karyotype was determined by applying classical GTG banding and FISH m...
متن کاملMosaic and partial monosomy of chromosome 21 in a case with low platelets count
Background Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. Case report In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Ho...
متن کاملClinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient's clinical presentation, along with his cytogenetic analysis, and we compare the findings to those of simi...
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: Japanese Journal of Human Genetics
سال: 1986
ISSN: 0021-5074
DOI: 10.1007/bf01876801