Sirs, Holoprosencephaly, premaxillary agenesis and polydactyly are usually associated with
chromosome abnormalities, particularly trisomy 13. A recent report of a stillbirth with these …

We report on partial dup (22q), growth deficiency, and the facioauriculovertebral sequence
including hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss in …

Hirschsprung disease is a developmental disorder resulting from the arrest of the
craniocaudal migration of enteric neurons from the neural crest along gastrointestinal …

A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary
maxillary central incisor is described, karyotypic studies showed deletion of the short arm of …

Distal interstitial deletions of chromosome 14 involving the 14q24‐q23. 2 region are rare,
and only been reported so far in 20 patients. Ten of these patients were analyzed both …

Anophthalmia and pituitary gland hypoplasia are both debilitating conditions where the
underlying genetic defect is unknown in the majority of cases. We identified a patient with …

Chromosome analysis with high‐resolution banding showed a small de novo interstitial
deletion of chromosome 2 (p21→ p22. 2) in an infant with holoprosencephaly. This is the …

2 BA Fernandez, J Siegel-Bartelt, J-AS Herbrick, I Teshima, SW Scherer,
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect …

We report on a de novo 7q36 deletion in a 3‐month‐old girl with manifestations of the 7q
terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were …

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and
midface in humans, with a frequency of 1/16,000 live births. Different genes are implicated in …