New PDF release: A Colour Atlas of Clinical Genetics

By Michael Baraitser, Robin M. Winter

The 1st 5 chapters of this booklet conceal the elemental ideas of scientific genetics and contain many beneficial diagrams. the remainder of the ebook is a photographic encyclopaedia of all of the identified genetic issues, grouped via platforms.

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There is an association with chromosome re-arrangements and deletions involving the long arm of chromosome 15. 62 240 242 241 243 240-243 Beckwith-Wiedemann syndrome. Note: Large tongue with open mouth. Infra-orbital hypoplasia. Horizontal creases on the lobe (arrow) of the ear together with small, punched-out pits behind the helix (arrow). Other features: Accelerated growth and osseous maturation, omphalocele, organomegaly, diaphragmatic eventration, pancreatic islet cell hyperplasia leading to hypoglycaemia.

Note: Downsloping palpebral fissures, bulbous nose with anteverted nostrils and thick alae, thick lips, prominent mid-line groove to tongue, long, soft and tapering fingers. Other features: X-rays show tufting of the terminal phalanges and vertebral defects, mental retardation. Inheritance: X-linked recessive with some expression in female carriers. 46 164 164 and 165 Fronto-nasal dysplasia. Note: Hypertelorism associated with a bifid nasal tip or complete mid-line splitting of the nose. Other features: Median cleft palate, anterior encephalocele.

Inheritance: Autosomal recessive. 181 I I 182 183 l 184 181-184 Opitz G syndrome. Note: Hypertelorism, posteriorly rotated ears. Anteriorly placed anus. Other features: Hypospadias, swallowing difficulties and laryngeal clefts. Intelligence - usually normal. Inheritance: Probably autosomal dominant. N. B. This syndrome shows overlapping features with the Opitz BBB syndrome in which swallowing difficulties are not encountered. 50 185 Moebius syndrome. Note: Bilateral facial weakness and bilateral abducens palsy.

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