UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性の細胞遺伝学的異常congenital cytogenetic abnormalities [show details]
…elsewhere. The mechanisms for structural chromosomal defects are discussed separately. Cri-du-chat (cat cry) (MIM #123450) is a deletion syndrome, with an incidence of approximately 1 in 45,000 liveborn …
2. 染色体の転座、欠失、および逆位chromosomal translocations deletions and inversions [show details]
…region is likely to lead to phenotypic manifestations. Perhaps the most well-known example is Cri-du-chat syndrome, which is due to a terminal deletion of the short arm of chromosome 5 Congenital abnormalities …
3. 先天異常：評価アプローチbirth defects approach to evaluation [show details]
…abnormalities [CHARGE] syndrome due to cranial nerve involvement) Eyes Hypertelorism (Cri-du-chat syndrome, Wolff-Hirschhorn syndrome) Hypotelorism (holoprosencephaly, trisomy 13) Extraocular…
4. 乳児や小児の小頭症：病因および評価microcephaly in infants and children etiology and evaluation [show details]
…children with microcephaly may be due to a syndrome (eg, Down syndrome, trisomy 13 or 18, 5p- [cri-du-chat], Rubinstein-Taybi) or toxins. An abnormal head shape and ridges along the suture lines are suggestive…
5. 小児の知的障害：原因の評価intellectual disability in children evaluation for a cause [show details]
…array diagnosis is not available or if a specific telomeric disorder (eg, DiGeorge syndrome, Cri-du-chat syndrome) is strongly suspected clinically. Blood lead testing should be performed if the child…