Recently added articles from Indian Journal of Human Genetics:

Reactivation of inactive X chromosome in buccal smear of carcinoma of breast

Jan 01, 2008; Natekar, Prashant; DeSouza, Fatima ... Introduction In somatic cells of normal females, one X chromosome is inactivated. The Barr body, a chromatin mass visible in the interphase, represents the late replicating inactive X. The number of Barr bodies is always one less than the total number of X chromosomes per cell ....

Megarbane syndrome

Jan 01, 2008; Caglayan, Ahmet; Dundar, Munis ... Sir, Megarbane et al. reported two male cousins from a consanguineous family. [1] In their cases syndrome consisting of minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. We describe a new case who has ...

Radial aplasia with oligodactyly

Jan 01, 2008; Panigrahi, Inusha; Kulkarni, Ketan ... Sir, A 15-month-old female child presented with bilateral upper limb deformity. She was born of a non-consanguineous marriage between a 23-year-old mother and 25-year-old father and was delivered by a normal vaginal delivery at 39 weeks of gestation. There was no history of drug intake ...

Cornelia de lange syndrome

Jan 01, 2008; Tayebi, Naeimeh ... Introduction Cornelia De Lange syndrome (CDLS) was first described by Cornelia de Lange, a Dutch pediatrician in 1933. [1] This syndrome is also called as Brachmann de Lange syndrome (BDLS) since he reported a patient with similar symptoms at autopsy in 1916. [2] Incidence of ...

A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure

Jan 01, 2008; Mozdarani, Hossein; Meybodi, Anahita; Zari-Moradi, Shabnam ... Introduction Reproduction in human being is genetically risky process and terribly incompetent. The most common outcome of conception is embryonic or fetal death. Near one-third of conceptions do not result in the delivery of a baby. Miscarriages are clinically detectable pregnancies ...

A case of acute myeloid leukemia-M2 with trisomy 4 in addition to t(8;21)

Jan 01, 2008; Trivedi, P; Patel, P; Brahmbhatt, M; Patel, B; Gajjar, S; Iyer, R; Parikh, E; Shukla, S; Shah, P; Bakshi, S ... Introduction t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), specifically in FAB M2. Trisomy 4 as the sole anomaly is a rare chromosomal abnormality associated with a specific subtype of primary acute non lymphocytic ...

A386G transition in DAZL gene is not associated with spermatogenic failure in Tamil Nadu, South India

Jan 01, 2008; Poongothai, J; Gopenath, T; Manonayaki, S ... Introduction Infertility is a major health problem today, affecting ~10-15% of married couples. Male infertility accounts for ~50% of the cases, with quantitative or qualitative abnormalities of sperm production leading to spermatogenic failure. Genetic abnormalities, as well as ...

Can novel Apo A-I polymorphisms be responsible for low HDL in South Asian immigrants?

Jan 01, 2008; Dodani, Sunita; Dong, Yanbin; Zhu, Haidong; George, Varghese ... Introduction Coronary artery disease (CAD) is the leading cause of morbidity and mortality in the world. Even though rates have decreased in the United States (US) and other developed countries over the past 30 years, event rates are still high in South Asians, [1] people with ancestors ...