Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

Abstract

Deletion of short arm of chromosome 6 can result in hydrops fetalis in early pregnancy.

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

“…And is the first case reported to date with terminal 17q gain to present with pleural effusion and ascites. Although the etiology of pleural effusion and ascites in our case is unknown, these findings have been reported in other genetic syndromes such as trisomy 21 [16][17][18], Turner syndrome [19], Noonan syndrome [20,21] and chromosomal deletions [22][23][24]. We suggest that the spectrum of phenotypes expressed by patients with 17p trisomy includes hydrops fetalis.…”

Pathogenesis of Focal Segmental Glomerular Sclerosis in a Girl with the Partial Deletion of Chromosome 6p

“…A kidney defect was observed in a patient with del(6)(p22.3-p24.3), and hydronephrosis caused by stenosis at the ureteropelvic junction developed in a patient with del(6)(p23p24.2) (Davies et al 1999). In a patient with del(6)(p21.3), hydronephrosis affected the left kidney while the right kidney was aplastic (Suwanrath- Kengpol et al 2004). Thus, similar partial deletions of 6p are associated with heterogeneous clinical patterns for reasons not precisely known.…”

Prenatal Diagnosis of a 4q33–4qter Deletion in a Fetus with Hydrops

“…Trisomies 13 and 16 and tetraploidy were also reported and were often associated with spontaneous abortions or intrauterine fetal demise. Rare chromosomal causes of hydrops reported include duplications [16,17] , translocations [14] , deletions [7,9,[18][19][20] , derivative chromosomes [8,9,21,22] and mosaics [23] . Table 1 summarizes the rare chromosomal abnormalities associated with hydrops reported to date.…”