By Michael Baraitser, Robin M. Winter
The 1st 5 chapters of this e-book disguise the fundamental rules of scientific genetics and contain many helpful diagrams. the remainder of the booklet is a photographic encyclopaedia of the entire identified genetic issues, grouped through platforms.
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Additional resources for A Colour Atlas of Clinical Genetics
68 68-70 X-linked mental retardation with fragile sites (Martin-Bell syndrome). Note: Thin face, prominent jaw and enlarged testes. Fragile site at the end of the long arms of Xchromosome (arrow). Other features: Mental retardation, speech delay. Female carriers are sometimes retarded. Inheritance: X-linked recessive. 28 69 7 Dysmorphic syndro 71 73 7S 71-80 Rubinstein- Taybi syndrome. Note: Mild microcephaly, antemongoloid slant to eyes with ptosis, glaucoma and strabismus, prominent hooked nose with broad nasal bridge and nasal septum extending below alae.
Inheritance: Usually sporadic. 221 Leprechaunism (Donahue syndrome). Note: Emaciated appearance, hirsutism, thickish lips, wide nostrils and large clitoris. Other features: Prominent eyes, mental retardation, low birth-weight, failure to thrive and hyperinsulinism. Inheritance: Autosomal recessive. 58 218 220 221 222 223 225 224 226 222-226 Aarskog syndrome. Note: Hypertelorism, anteverted nostrils, small nose, broad philtrum, maxillary hypoplasia, 'shawl' scrotum, lax joints, bulbous tips to digits and clinodactyly.
Note: Short, stubby fingers, short nails, coneshaped epiphyses of the phalanges and short metacarpals. Other features: Short stature. Other syndromes such as pseudohypoparathyroidism and pseudopseudohypoparathyroidism should be excluded. Inheritance: Autosomal dominant. 144 144-151 Cornelia deLange syndrome. Note: Low birth weight, short stature, microcephaly, generalized hirsutism, synophrys, long eyelashes, anteverted nostrils, long philtrum, thin upper lip, micrognathia and downturned angles of mouth.