Detection of mosaic 15q11.1-q11.2 deletion encompassing NBEAP1 and  POTEB in a fetus with diffuse lymphangiomatosis

Chen, Chih‐Ping; Wang, Kuo-Gon; Huang, Hsu-Kuang; Peng, Cheng-Ran; Chern, Schu‐Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Lee, Chen‐Chi; Wang, Wayseen

doi:10.1016/j.tjog.2017.01.003

Cited by 9 publications

(1 citation statement)

References 7 publications

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“…Some single gene disorders (eg, Hennekam lymphangiectasialymphedema syndrome) and chromosomal anomalies (eg, Turner syndrome) reveal lymphatic malformations as a prominent feature. The authors of 1 report link diffuse lymphangiomatosis in a newborn to a mosaic deletion on chromosome 15, 18 suggesting that a chromosomal abnormality with a contiguous gene effect should be considered to explain the concurrent diagnoses in our patient.…”

Section: Figurementioning

confidence: 72%

A Novel Presentation of Littoral Cell Angioma and Lymphatic Malformations in a Neonate

et al. 2018

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This case report describes a novel presentation of littoral cell angioma (LCA) and lymphatic malformations involving the omentum and mesentery. To our knowledge, these 2 entities have not been reported in the same patient. A 1-month term infant male presented with chylous ascites. During his workup, imaging detected splenic nodules. Biopsies revealed that the nodules were LCA and the chylous ascites was secondary to microscopic mesenteric and omental lymphatic malformations. Evaluation for a secondary malignancy, an underlying immunologic defect, and genetic causes were unrevealing. The presence of LCA and lymphatic malformations in the same patient suggests a genetic link between these 2 rare vascular disorders and may help elucidate the etiopathogenesis of these 2 poorly understood anomalies.

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Section: Figurementioning

confidence: 72%