Trisomy 18 Syndrome
Trisomy
18 syndrome is characterized by microcephaly and distal arthrogryposis
especially involving the hands. The position of the hands is characterized
by overlapping of the third finger by the index finger and of the fourth
finger by the fifth finger. The position of the hand is so characteristic
that the term “trisomy 18 hand position” is commonly used to describe
it. Neonates with trisomy 18 often have a prominent occiput. Chromosome
studies are indicated. Ten percent of patients of neonates with trisomy
18 syndrome have translocation. Parents with balance translocations are
more likely to have offspring with trisomy 18 syndrome than parents who
are not carriers of the translocation. More
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Trisomy
13 Syndrome
Trisomy
13 syndrome is characterized by microcephaly, holoprosencephaly, facial
abnormalities ranging from hypertelorism to cyclopia, cleft palate and
lip, polydactyly, narrow hyperconvex finger nails, prominent heels, and
cutis aplasia in the posterior scalp. The skin lesions are very characteristic
but they are not always present. Chromosomal studies are indicated to
confirm the diagnosis and to detect translocations. Parents with balance
translocations are more likely to have other offspring with Trisomy 13
syndrome than parents who are not carriers of the translocation. More
about... 157
5p-Syndrome
or Cri-du-chat Syndrome
5p-syndrome
is characterized by a peculiar catlike cry. The peculiar quality of this
sound is probably due to larynx and vocal cord malformations. Microcephaly,
prominent epicanthal folds, and down-slanting palpebral fissures are common
features. The chromosomal region involved in the larynx and vocal cord
malformations is at 5p15.3. The affected chromosome in 5p-syndrome is
paternal in 80% of the cases.
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