2008年5月15日 · Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body. …

Partial duplications of the long arm of chromosome 3, dup (3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are …

Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome. 1. …

2023年2月9日 · Partial duplication 3q syndrome is a rare but well-defined clinical entity [1, 2]. Its phenotype includes abnormalities of the central nervous system, typical facial dysmorphic …

2011年12月1日 · The 3p deletion syndrome is a rare contiguous gene syndrome involving chromosome 3p25-p26 deletion and is characterized by low birth weight, psychomotor delay, …

A duplication of 3q is a rare genetic condition caused by having an extra part of one of the body’s 46 chromosomes. For healthy development, chromosomes should

2023年2月9日 · Background: Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q …

2019年6月13日 · The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after …

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible …

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible …