WordNet

chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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
2. 胎児異数性に関連する超音波所見 sonographic findings associated with fetal aneuploidy
3. 緩和ケア：医学的に無益で、不適切な/推奨できない可能性のある療法 palliative care medically futile and potentially inappropriate inadvisable therapies
4. 遺伝的変異の概要 overview of genetic variation
5. 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

[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report].

Alvarado Socarras JL1, Laverde Amaya DC1, Prada C1, García Carrillo J1.
Archivos argentinos de pediatría.Arch Argent Pediatr.2015 Oct 1;113(5):e290-3. doi: 10.1590/S0325-00752015000500023.
We report a male infant with midline defects, congenital heart disease and polydactyly, features suggestive of trisomy 13. However, the report of the karyotype was normal. By clinical findings the final diagnosis was likely to be Pseudotrisomy 13. Although the prognosis is poor in both conditions, t
PMID 26294165

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

Srebniak MI1, Diderich KE1, Joosten M1, Govaerts LC1, Knijnenburg J1, de Vries FA1, Boter M1, Lont D1, Knapen MF2,3, de Wit MC2, Go AT2, Galjaard RH1, Van Opstal D1.
European journal of human genetics : EJHG.Eur J Hum Genet.2015 Sep 2. doi: 10.1038/ejhg.2015.193. [Epub ahead of print]
To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated the prevalence and genetic nature of pathogenic findings. We reclassified all pathogenic findings into three categories: causative findings; unexpected dia
PMID 26328504

Metanephric adenoma: the utility of immunohistochemical and cytogenetic analyses in differential diagnosis, including solid variant papillary renal cell carcinoma and epithelial-predominant nephroblastoma.

Kinney SN1, Eble JN1, Hes O2, Williamson SR3, Grignon DJ1, Wang M1, Zhang S1, Baldrige LA1, Martignoni G4, Brunelli M4, Wang L5, Comperat E6, Fan R1, Montironi R7, MacLennan GT8, Cheng L1.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.Mod Pathol.2015 Sep;28(9):1236-48. doi: 10.1038/modpathol.2015.81. Epub 2015 Aug 7.
Metanephric adenoma is a benign renal neoplasm that overlaps in morphology with the solid variant of papillary renal cell carcinoma and epithelial-predominant nephroblastoma. To aid in resolving this differential diagnosis, we investigated the utility of immunohistochemical and molecular analyses in
PMID 26248896

日齢Oの新生児。母親は42歳、1回経妊1回経産婦。妊娠19週の胎児超音波検査で脳室拡大、小脳低形成、心奇形が認められた。妊娠37週に骨盤位のため帝王切開で出生した。出生後から自発呼吸が微弱であり、人工呼吸管理を施行した。身長 41.5cm(-2.42 SD)、出生時体重 1,528g(-3.72 SD)、頭囲 31.5cm(-0.83SD)。体温 36.1℃。心拍数 144/分、整。血圧 60/30mmHg。四肢末梢に軽度の冷感を認める。大泉門は平坦、軟で、2×2cmと開大している。心音と呼吸音とに異常を認めない。腹部は平坦、軟で、肝・脾を触知しない。腸雑音は弱い。筋緊張は弱い。外性器は男性型である。胸部エックス線写真で心胸郭比58%であった。頭部、手および足の写真(別冊No. 4)を別に示す。
考えられる疾患はどれか。

※国試ナビ4※　［112F050］←［国試_112］→［112F052］

42歳の初妊婦。妊娠31週5日。羊水過多のため精査目的で紹介されて来院した。超音波検査で胎児推定体重 1,250g、羊水指数(AFI)28.5cm(基準 5～25)であり、胎児に房室中隔欠損を認め、心内膜床欠損症が疑われた。胎児の腹部超音波像(別冊No. 22Ａ、Ｂ)を別に示す。
最も考えられる胎児の疾患はどれか。