Monosomy 22 with mosaicism

Moghe, M S; Patel, Z. M.; Peter, Jorge; Ambani, L. M.

doi:10.1136/jmg.18.1.71

Cited by 8 publications

(5 citation statements)

References 4 publications

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“…Monosomy for the entire chromosome 22 is a rare autosomal aberration. Up to now, this anomaly has been reported in six cases [DeCicco et al, 1973;Lewinsky et al, 1990;Merino et al, 1995;Moghe et al, 1981;Rosenthal et al, 1972;Verloes et al, 1987]. We report on a male fetus with multiple congenital anomalies who had mosaicism of chromosome 22 monosomy.…”

Section: Introductionmentioning

confidence: 56%

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Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance

et al. 1998

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We describe an abnormal premature male infant with mosaic monosomy of chromosome 22. He had a unique facial appearance, similar to those with DiGeorge syndrome, and hypertonicity, limitation of extension at major joints, and flexion contractures of all fingers. This rare chromosomal aberration has been reported previously in 6 cases, three of them being nonmosaic and three mosaic patients. There was a great variability of expression among the anomalies of these patients. However, the most common anomalies were in the face and joints. A correlation between the severity of expression and percent of monosomic cells was not clear.

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Section: Introductionmentioning

confidence: 56%

“…Of the six full monosomy 22 cases described previously, three were nonmosaic [DeCicco et al, 1973;Merino et al, 1995;Rosenthal et al, 1972] and the others were mosaic [Lewinsky et al, 1990;Moghe et al, 1981;Verloes et al, 1987]. The percentage of monosomic cells in each case is shown in Table I.…”

Section: Discussionmentioning

confidence: 92%

Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance

et al. 1998

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“…In this report, we describe a case of gastroschisis a&ociated with fetal monosoiny 22 mosaicism. Monosomy 22 mosaicism is a rare chromosom.al abnormality reported, to our knowledge, only twice before (Moghe et al, 1981;Verloes et al, 19,97). Both were males, as in this case, but they were diagnosed in e.arly childhood.…”

Section: Discussionmentioning

confidence: 75%

Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow

et al. 1990

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“…To the best of our knowledge, only four live-born infants with mosaicism for monosomy of chromosome 22 have been described. The first one is a 2-year-old male child with moderate psychomotor retardation, generalized hypotonia, large ears, epicanthus, synophrys, and cutaneous syndactyly between all the fingers [ 28 ]. The patient’s karyotype was 45,XY,-22/46,XY [12/50], i.e., 24% of lymphocytes were monosomic.…”

Section: Discussionmentioning

confidence: 99%

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

et al. 2018

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BackgroundRing chromosome instability may influence a patient’s phenotype and challenge its interpretation.ResultsHere, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13.31 deletion syndrome. All chromosomal aberrations were confirmed by real-time PCR in lymphocytes and detected in skin fibroblasts. The deletions were also found in the buccal epithelium. According to FISH analysis, 8% and 24% of the patient’s lymphocytes and skin fibroblasts, respectively, had monosomy 22.ConclusionsWe believe that a combination of 22q13.32-q13.33 deletion and monosomy 22 in a portion of cells can better define the clinical phenotype of the patient. Importantly, the in vivo presence of monosomic cells indicates ring chromosome instability, which may favor karyotype correction that is significant for the development of chromosomal therapy protocols.Electronic supplementary materialThe online version of this article (10.1186/s13039-018-0375-3) contains supplementary material, which is available to authorized users.

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Monosomy 22 with mosaicism

Cited by 8 publications

References 4 publications

Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance

Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance

Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

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