Add to ORKGWe report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11;q21), + der (5) t(5;21). The mother's karyotype was 46, XX, der (5) t(5,21) (q11;q21). The chromosome imbalance resulted from 3:1 meiotic segregation
Background: Down syndrome, caused due to trisomy of chromosome 21. Methods: 131 suspected cases of ...
The presence of a translocation between two chromosomes in the I3-I5 (D) group does not usually give...
38 leaves.The problem. Eighty-seven patients clinically diagnosed as having Down's syndrome were stu...
The presence of a translocation 21/13-15 is related in 46 chromosomes, karyotypes of a mongoloid mal...
A 3 month-old boy with a karyotype of 48, XYY, + 21 is reported. The patient had the typical feature...
CONTEXT: Robertsonian translocations (RT) are among the most common balanced structural rearrangemen...
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chrom...
Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carrie...
ABSTRACT Double aneuploidy involving XYY and trisomy 21 is rare. XYY/XY mosaicism has been described...
Down syndrome patients. In the present case dysmorphic features and developmental delay were compati...
We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by ...
The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with...
Introduction: Down syndrome (DS) is a common genetic disorder, occurring in approximately 1 in 700 b...
PubMedID: 18990986Reciprocal translocation carriers have reduced fertility, increased risk of sponta...
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy: We describe a girl with...
Background: Down syndrome, caused due to trisomy of chromosome 21. Methods: 131 suspected cases of ...
The presence of a translocation between two chromosomes in the I3-I5 (D) group does not usually give...
38 leaves.The problem. Eighty-seven patients clinically diagnosed as having Down's syndrome were stu...
The presence of a translocation 21/13-15 is related in 46 chromosomes, karyotypes of a mongoloid mal...
A 3 month-old boy with a karyotype of 48, XYY, + 21 is reported. The patient had the typical feature...
CONTEXT: Robertsonian translocations (RT) are among the most common balanced structural rearrangemen...
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chrom...
Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carrie...
ABSTRACT Double aneuploidy involving XYY and trisomy 21 is rare. XYY/XY mosaicism has been described...
Down syndrome patients. In the present case dysmorphic features and developmental delay were compati...
We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by ...
The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with...
Introduction: Down syndrome (DS) is a common genetic disorder, occurring in approximately 1 in 700 b...
PubMedID: 18990986Reciprocal translocation carriers have reduced fertility, increased risk of sponta...
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy: We describe a girl with...
Background: Down syndrome, caused due to trisomy of chromosome 21. Methods: 131 suspected cases of ...
The presence of a translocation between two chromosomes in the I3-I5 (D) group does not usually give...
38 leaves.The problem. Eighty-seven patients clinically diagnosed as having Down's syndrome were stu...