Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis

Abstract

We report on a 9-month-old boy who had duplication of the long arm of chromosome 9 [46,XY, -12, +der(12) inv ins (12;9)(p13;q32q13)mat.]. The clinical manifestations of the patient were different from those seen in distal 9q duplication. Pyloric stenosis appears to be common in cases with proximal 9q duplications.

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

“…In our case, therefore, it was expected that the phenotypes of both syndromes might be observed. Among the clinical features in our case, dolichocephaly, frontal bossing, smooth and thick hair, deep-set eyes, horizontal palpebral fissures, beaked nose, and overhanging upper lip were characteristic for the dup(gq) syndrome (de Grouchy and Turleau, 1984;Solton et al, 1984;Yamamoto et aL, 1988). Although growth and developmental retardation, small mouth, micrognathia, high-arched palate, long fingers and toes, and heart disease are features noted in both 9p-and dup(gq) syndromes (de Grouchy and Turleau, 1984), none of them, excluding long fingers and toes, are pathognomonic.…”

“…Eighty cases of del(9p) and nineteen cases of dup(9q) were reviewed by Huret et al (1988) and Yamamoto et al (1988) respectively. Since the clinical findings of patients with del(9p) or dup(gq) are consistent in each, these chromosomal abnormalities have been established as clinically recognizable syndromes.…”

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

“…Pyloric stenosis has not been described in cases with distal 14q duplications or in cases with terminal 14q deletions, although pyloric stenosis is a common feature in cases with partial trisomy 9q involving bands q22.1-q31.3 [Yamamoto et al, 1988;Heller et al, 2000], and susceptibility to infantile hypertrophic pyloric stenosis is associated with a promoter polymorphism in NOS1 gene (gene map locus 12q24.2-q24.31) that encodes nitric oxide synthase-1 [Chung et al, 1996;Saur et al, 2004]. The pyloric stenosis in the present case may be a coincidental event.…”

Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers

“…However, after 2 days of hospitalization, hyponatremia and metabolic acidosis persisted, which suggested insufficient aldosterone production. A steroid profile was performed, which revealed abnormally high levels of 17-hydroxyprogesterone (3430 ng/dL, 40-220 ng/dL), androstenedione (763 ng/dL, 6-68 ng/dL), testosterone (69 21 ng/dL, 20-50 ng/dL), and progesterone (568 ng/dL, 7-52 ng/dL). The diagnosis of salt-wasting 21-OHD CAH was made.…”

“…2 21-OHD CAH typically presents with vomiting, dehydration, and metabolic acidosis. The overproduction of androgen hormones inherent in classical 21-OHD CAH results in ambiguous genitalia in female newborns but normal genitalia in males.…”