Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.

Abstract

We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18)(pl5;qll.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas. (JMed Genet 1998;35:865-867) Keywords: cri du chat; 5p-; 18p-; tetralogy of Fallot Prenatal diagnostic testing provides information that can be used to predict potential problems for an affected child. The situation becomes more complex, however, when a fetus is found to have an anomaly that has not been described previously. In this report we will discuss the clinical features of a child born after amniocentesis showed a 45,XX,der(5) t(5;18)(p15;ql 1.2),-18 karyotype.

Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography

“…For instance, 2 cases each of CH with cardiovascular anomalies (cases 7 and 8) showed a large deletion on the short arm of chromosome 5 (5p15.33), leading to the genetic diagnosis of the 5p deletion syndrome (also known as the cri‐du‐chat syndrome). Similar cases with sonographic findings of CH and cardiac anomalies were reported by Hutcheon et al, and Aoki et al, Teoh et al, and Chen et al also reported cases of cri‐du‐chat syndrome manifesting as CH and other structural abnormalities. These findings indicate that CH with or without cardiovascular anomalies as identified by prenatal ultrasonography might be an important phenotype of the fetal 5p deletion syndrome with different break points.…”

Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

“…Weiss et al (2003) reported an association between the distal 5p deletion and low maternal serum human chorionic gonadotrophin. The reported prenatal sonographic features of the cri-du-chat syndrome include fetal choroid plexus cysts (Sarno et al, 1993;Fankhauser et al, 1998), isolated bilateral ventriculomegaly (Stefanou et al, 2002), nuchal skin edema (Aoki et al, 1999), hydrops fetalis (Tullu et al, 1998;Aoki et al, 1999), bilateral hydronephrosis (Tullu et al, 1998), hypoplastic cerebellum, a large ventricular septal defect, an overriding aorta, short index fingers (Aoki et al, 1999), single umbilical artery, and tetralogy of Fallot (Hutcheon et al, 1998). The frequency of microcephaly in patients with the cri-du-chat syndrome can be as high as 98% (Kousseff, 1990).…”