Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
نویسندگان
چکیده
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 کاملA case report of Monosomy 21
monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor activities.we report an eight years old boy who was admitted in pediatric ward(hospital No 1 of Ker...
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 Hospi...
متن کاملClonal monosomy of chromosome 21 in a case of myelodysplastic syndrome.
This study reports on a cytogenetic finding in a bone marrow examination of a 47-year-old male patient treated in the Hematology and Blood Transfusion Service of the Hospital de Base in São José do Rio Preto, São Paulo State, Brazil. The only alteration found at diagnosis of myelodysplastic syndrome (MDS) subtype refractory anemia with excess blasts (RAEB-2) was clonal monosomy of chromoso...
متن کاملTwo siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
A sister and a brother with 46, XX (46, XY), -21, +der (15) (q22.1; q22.1) mat were reported whose mother had a karyotype of 46, XX, t(15; 21)(q22.1; 22.1) and was phenotypically normal. Both sibs were mentally retarded and dysmorphic. Moreover, the sister had a holoprosencephaly with congenital hydrocephalus, and the brother showed congenital hydrocephalus.
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2018
ISSN: 1755-8166
DOI: 10.1186/s13039-018-0390-4