Campeau Philippe M, Ah Mew Nicholas, Cartier Lola, Mackay Katherine L, Shaffer Lisa G, Der Kaloustian Vazken M, Thomas Mary Ann
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563.
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-uterine growth retardation. Amniocentesis showed a normal karyotype. A postnatal MRI showed moderate to severe non-obstructive 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 approximately 10 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.
1p36单体是一种越来越被认可的染色体异常。我们描述了两名患有1p36单体的患者，他们在产前超声检查中发现了脑部异常。首例患者在产前因超声异常被确诊，包括脑室扩大、单脐动脉、单侧马蹄内翻足、室间隔缺损和宫内生长迟缓。羊水穿刺显示核型正常。产后MRI显示中度至重度非梗阻性脑积水、双侧脑室后角增宽以及内囊前肢髓鞘形成异常。产后核型显示1p36.3缺失，由于分辨率低，产前未检测到。通过阵列比较基因组杂交（CGH）进行的分子研究确定了约10 Mb的末端缺失。我们的第二例患者是一名胎儿，产前超声检查发现脑部异常，提示全前脑畸形。羊水穿刺显示46,XX,der(1)t(1;20)(p36.1;p12.2)，发现是母系遗传。胎儿尸检显示脑积水、局灶性多小脑回和小脑发育不全。然而，全前脑畸形未得到证实。除了描述两名在产前超声检查中脑部解剖结构异常的1p36单体患者外，我们还回顾了其他产前检测到的1p36单体患者的文献，并回顾了产前和产后所见的脑部异常情况。
