In this study we describe the detection of a de novo 1.24 Mb microduplication at 5q35.1 in a 19-year-old boy with HPE and preaxial polydactyly using a genome-wide tiling path resolution microarray.

Holoprosencephaly (HPE) is a rare congenital anomaly in which an embryo’s brain does not properly divide into two halves, known as the left and right hemispheres. HPE affects brain development and can ...

We describe the use of preimplantation genetic diagnosis for SHH mutation in a family with holoprosencephaly. The use of this technique, followed by confirmation of mutation-free status by ...

Fetal magnetic resonance imaging can reliably spot holoprosencephaly as early as 18 gestational weeks, providing an opportunity to counsel families earlier in their pregnancy, according to new ...

BRITISH teen Nora Quoirin was tragically found dead in the Malaysian jungle on August 13 after she was reported missing a week earlier. Nora suffered from holoprosencephaly - but what is the disease, ...

Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic guide ...

Cyclopia is a rare condition that causes a child to be born with one eye, no nose, and a proboscis (a nose-like growth) above the eye. It's caused by a severe malformation of the baby’s brain early in ...

A BABY born with part of her brain protruding through her forehead has defied doctors expectations after she was given just minutes to live. Medics warned that Karlie Toland would most likely be ...

While I've always considered myself a pro-life conservative, I do admit to having mixed feelings about abortion. I've been following your series on late-term abortion for the past several days, and I ...