Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.

Abstract

We report, to the best of our knowledge, only the fourth case of trisomy for the interstitial region 7q22-*q31.2 and two cases of trisomy 7q34-*qter, the most distal region yet to be described.Case reports CASE 1 Case 1, born 8.12.87, was the first born of twins to a

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

“…Four cases of duplicated regions of 7q were large, had complex rearrangements with other chromosomes, and seizures were not a feature (101,102). However, Löffler et al (103) reported siblings with a pure duplication of 7q32-q34, each having a generalized seizure disorder.…”

Syndrome of facial, oral, and digital anomalies due to 7q21.2?q22.1 duplication

“…Since the use of banding techniques was introduced in human cytogenetics, at least 41 liveborn patients with well documented partial 7q trisomy have been published: 36 cases previously reviewed by Novales et al [1982], Johnson et al [1986], and Forabosco et al [1988], and five additional cases: one of the two cases published by Zackowsky et al [1990], three cases reported by Romain et al [1990], and one case by Humphreys et al [1991]. In most of them, a terminal partial trisomy was present involving a variety of segments from 7q21→qter to 7q35→qter, whereas in only seven cases, an interstitial partial trisomy involving the segments 7q11.2→q11.23 [Hoo et al, 1982], 7q11→q22 [Kardon et al, 1983], 7q21.12→q31.32 [Humphreys et al, 1991], or 7q22→q31 [Grace et al, 1973;Berger et al, 1974;Serville et al, 1975;Romain et al, 1990] was described.…”

A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

“…Unlike the reported facial features of monosomy 7q (7q36→qter) [2,4], the special facial appearance of this boy more closely resembled babies with partial trisomy 7q syndrome [9,13]. These babies present with delays in development, feeding difficulty after birth, mental retardation, serious hypotonus, and unusual faces with frontal bossing, macrocrania, widely-set eyes, low nasal features, and low set ears.…”