Barola Sindhu, Parrill Allison M, Mahmoudzadeh Samaan, Bizargity Peyman, Verma Rita
Pediatrics, Nassau University Medical Center, East Meadow, USA.
Clinical Medicine, American University of the Caribbean School of Medicine, Cupecoy, SXM.
Cureus. 2022 Mar 18;14(3):e23290. doi: 10.7759/cureus.23290. eCollection 2022 Mar.
We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. General appearance revealed microcephaly, micrognathia, ankyloglossia, small mouth, and high arch palate. The patient also presented with hypotonia, poor feeding, and poor weight gain in the first week of life followed by hypertonia and tremors from the second week of life. The phenotypic and clinical presentation lead to the genetic investigation of microarray which revealed 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4.
我们报告了一例患有17q23.1q23.2微缺失以及11p11.2q13.4额外纯合性的新生儿病例。在文献中，17q23.1q23.2微缺失综合征是一种在9例患者中报道的新型综合征。我们的患者是一名足月男婴，因低血糖、呼吸窘迫、疑似败血症和血小板减少症入住新生儿重症监护病房。总体外观显示小头畸形、小颌畸形、舌系带过短、小嘴和高腭弓。该患者在出生后第一周还出现了肌张力减退、喂养困难和体重增加不佳的情况，随后从出生后第二周开始出现肌张力亢进和震颤。表型和临床表现促使进行基因芯片检查，结果显示存在17q23.1q23.2微缺失以及11p11.2q13.4额外纯合性。
