The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Primary ciliary dyskinesia Autosomal recessive ?; dynein gene(s); Asthenozoospermia; bronchiectasis, other respiratory
many loci infections
Kartagener syndrome Autosomal recessive ?; dynein gene(s); Same as for ciliary dyskinesia plus situs inversus
heterogeneous
Bardet–Biedl syndrome Six genes, all autosomal recessive 1 : 100,000 Mental retardation, hypogonadism, multiple
congenital abnormalities
Noonan syndrome Two or more genes, autosomal dominant 1 : 5000 Short stature, multiple congenital abnormalities,
cryptorchidism, azoospermia, oligospermia
Myotonic dystrophy Autosomal dominant, trinucleotide 1 : 8000 Myotonia, balding, oligoasthenospermia, cataracts,
repeat disorder cardiac conduction problems
Kallmann syndrome Type that affects only males is X-linked 1 : 10,000 Pubertal delay, anosmia, azoospermia
recessive; are autosomal recessive and
dominant forms that affect both genders
Prader–Willi syndrome Paternal deletion (70%), maternal 1 : 10,000 Hypotonia at birth; excessive appetite in early
uniparental disomy (29%), imprinting childhood associated with obesity, plus characteristic
defect (1%) facies, hypogonadism, developmental delay
Source: Ref. 14.
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