At eight weeks of pregnancy a couple were informed that the prospective father's mother had died of Huntington's disease (HD). There were no living affected members in the immediate family to confirm the diagnosis. By inspection of the local genetic register, it was established that it was indeed HD segregating in the extended family. Genotyping of the prospective mother and father, the father'...

OBJECTIVE X-linked Adrenal Hypoplasia Congenita (AHC) is a rare disorder caused by mutations in NR0B1 (DAX1) gene. DESIGN We present two boys (cousins) with AHC who came to our attention at the age of 10 days and 15 days, respectively, in a life-threatening state. Laboratory studies in their neonatal periods showed hyponatremia and hyperkalemia. Primary adrenal insufficiency was confirmed, wi...

We examine longitudinal patterns of involvement of young, unmarried biological fathers (n = 77) in teenage-mother families using cluster analytic techniques that incorporate multiple dimensions of financial, emotional, and instrumental involvement. Approximately one-third of fathers maintained high levels of involvement over time, another third demonstrated a low level at both time points, and ...

Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant evidenced by transmission to a woman from her paternal grandmother via her father. We ascertained 3,499 grandmother/granddaughter pairs from the Familial Ovarian Cancer Registry at the Roswell Park Cancer Institute observing ...

A female neonate, baby A, was examined in the nursery and noted to have a small skin tag in the sacrococcygeal region (Fig. 1). The rest of her exam was normal and there were no obvious neurological deficits or any palpable bony defects. No skin tags were noted anywhere else on her body. Baby A’s mother had two vaginal skin tags. Upon further questioning, we discovered that baby A’s father, mat...

Biologists use genetic relatedness between family members to explain the evolution of many behavioural and developmental traits in humans, including altruism, kin investment and longevity. Women's post-menopausal longevity in particular is linked to genetic relatedness between family members. According to the 'grandmother hypothesis', post-menopausal women can increase their genetic contributio...

Prior tests of the grandmother hypothesis have suggested that postreproductive female Japanese macaques, Macaca fuscata, do not significantly improve the survivorship of their descendents. However, not all postreproductive females are grandmothers, and not all grandmothers are postreproductive. In this study we looked at the daughters and grandchildren of 70 female Japanese macaques to assess t...

OBJECTIVE The current study prospectively examines the intra-uterine hypothesis by comparing maternal, paternal and grandparental lineage influences on children’s diet and also maternal–child aggregation patterns during pregnancy and early childhood. DESIGN Prenatal dietary information was available for expectant mothers, fathers and up to four grandparents through a detailed validated semi-q...

Down syndrome (DS), trisomy 21, is the most common chromosomal syndrome that affects one in 600800 live births. The advanced maternal age is the only well known risk factor to cause DS. Our study revealed that many young mothers produced DS children than advanced age mothers in India. A total of 150 suspected DS cases were investigated cytogenetically. Randomly selected 200 healthy families in ...