Partial deletion of the long arm of chromosome 18

Karam Saoud, MD ; Mehdi Laaouze, MD ; Nisrine Mamouni, MD ; Sanaa Erraghay, MD ; Chahrazed Bouchikhi, MD ; Abdelaziz Banani, MD.

Obstetrics and Gynecology I - HASSAN II University Hospital – Fez- Morocco

Case report

A 30-year-old woman (G2P1) was sent to our office at 28 weeks and 4 days of gestation due to finding a cleft palate. An amniocentesis was done, which concluded a partial deletion of long arm of the chromosome 18 - 46XY, del(18)(q21.2)-. Our ultrasound examination revealed following findings:

Image 1: 2D saggital image of the fetal brain shows short and thin corpus callosum.

deletion chr 18 (1)

Image 2 : 2D showing cleft palate.

deletion chr 18 (2)

Image 3 : 2D images showing empty renal fossa, usual finding in renal agenesis.

deletion chr 18 (3)

Image 4 : 4D and 2D images showing micropenis.

deletion chr 18 (4)
deletion chr 18 (5)

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