A case of partial monosomy 21q22.2 associated with Rieger's syndrome.
نویسندگان
چکیده
A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts revealed a deletion of the long arm of chromosome 21 at sub-band q22.2 with satellites on both arms. Normal SOD-1 activity confirmed the breakpoint to be distal to band q22.1.
منابع مشابه
Mosaic 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 کاملMicrocephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
متن کاملTurner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
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 کاملPartial Trisomy 1q21-qter and Partial Monosomy 7q21-qter Due to a Derivative Chromosome 7 in Myelodysplastic Syndrome Associated with Squamous Cell Carcinoma: Case Report
Background: Myelodysplastic syndromes (MDS) are subtypes of hematological disorders which are known to have partial bone marrow dysplasia, peripheral cytopenia, and later on an increased risk to develop acute myeloid leukemia. Chromosomal aberrations are detected in ~50% of cases of de novo MDS cases and the most common chromosomal abnormalities of this entity include complete or partial monoso...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 21 3 شماره
صفحات -
تاریخ انتشار 1984