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1. 顔面裂および全前脳胞症 facial clefts and holoprosencephaly
2. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
3. 鼻の先天異常 congenital anomalies of the nose
4. 無脳症 anencephaly
5. 胎児異数性に関連する超音波所見 sonographic findings associated with fetal aneuploidy

English Journal

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions.

Bruns DA1, Campbell E.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Dec;164(12):2987-95. doi: 10.1002/ajmg.a.36689. Epub 2014 Oct 16.
Trisomy 13 (Patau syndrome), identified by Patau and colleagues [1960; Lancet 1: 790-793] is the third most common autosomal condition. Population studies indicate less than one in 10 children reaches their first birthday. In the face of mixed findings and recommendations for treatment, additional r
PMID 25323598

Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

Peltekova IT1, Hurteau-Millar J, Armour CM.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Dec;164(12):3132-6. doi: 10.1002/ajmg.a.36740. Epub 2014 Sep 24.
Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay
PMID 25257335

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature.

Kehinde FI1, Anderson CE, McGowan JE, Jethva RN, Wahab MA, Glick AR, Sterner MR Jr, Pascasio JM, Punnett HH, Liu J.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Dec;164(12):3187-93. doi: 10.1002/ajmg.a.36778. Epub 2014 Sep 24.
Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has
PMID 25257307

Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly) - Case report

Case report: Alobar versus semi-lobar type of holoprosencephaly in prenatal differential diagnosis (Hydrocephalus: On-line journal consensus conference (HCOL:JCC No. 001) Prenatal diagnosis of fetal hydrocephalus (part 1) Holoprosencephaly)

First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46, XX fetus