{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T12:42:04Z","timestamp":1788352924584,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T00:00:00Z","timestamp":1226448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Monosomy 1p36 is an increasingly recognized chromosomal anomaly. We describe two patients with monosomy 1p36 who had brain abnormalities detected on prenatal ultrasound. The first patient was ascertained prenatally with ultrasound abnormalities, including ventriculomegaly, a single umbilical artery, a unilateral club foot, a ventricular septal defect, and intra\u2010uterine growth retardation. Amniocentesis showed a normal karyotype. A postnatal MRI showed moderate to severe non\u2010obstructive hydrocephalus, bilateral colpocephaly, and abnormal myelination of the anterior limb of the internal capsule. A postnatal karyotype demonstrated a deletion of 1p36.3 that was not detected prenatally due to low resolution. Molecular studies by array comparative genome hybridization (CGH) identified a terminal deletion of \u223c10 Mb. Our second patient was a fetus who had brain abnormalities suggestive of holoprosencephaly identified on prenatal ultrasound. Amniocentesis showed 46,XX,der(1)t(1;20)(p36.1;p12.2), that was found to be maternally inherited. Fetal autopsy demonstrated hydrocephalus, focal polymicrogyria, and cerebellar hypoplasia. However, holoprosencephaly was not confirmed. In addition to describing two patients with monosomy 1p36 who had abnormal brain anatomy on prenatal ultrasounds, we review the literature of other prenatally detected patients with monosomy 1p36 and review brain abnormalities seen both prenatally and postnatally. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32563","type":"journal-article","created":{"date-parts":[[2008,11,13]],"date-time":"2008-11-13T02:38:40Z","timestamp":1226543920000},"page":"3062-3069","source":"Crossref","is-referenced-by-count":39,"title":["Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature"],"prefix":"10.1002","volume":"146A","author":[{"given":"Philippe M.","family":"Campeau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Ah Mew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lola","family":"Cartier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L.","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vazken M.","family":"Der Kaloustian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Ann","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,11,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205184"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","unstructured":"Bahi\u2010BuissonN Guttierrez\u2010DelicadoE SouffletC RioM Cormier DaireV LacombeD HeronD VerloesA ZuberiS BurglenL AfenjarA MoutardML EderyP NovelliA BernardiniL DulacO NabboutR PlouinP BattagliaA.2007.Spectrum of epilepsy in terminal 1p36 deletion syndrome. 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