Duchenne muscular dystrophy in a girl with a 45, X/46, XX/47, XXX chromosome constitution

Bortolini, Eliete Rabbi; Silva, Déa Martins da; Chequer, Rosemary Santos; Vianna‐Morgante, Angela Maria; Zatz, Mayana; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320250207

Cited by 12 publications

(3 citation statements)

References 14 publications

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“…A few mosaics similar to our case were reported (Ferrier et al, 1965;Jalbert et al, 1966;Bortolini et al, 1986). In all three cases, the stigmata of Turner's syn- Table 2.…”

Section: Discussionsupporting

confidence: 85%

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Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution

et al. 1987

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“…A few mosaics similar to our case were reported (Ferrier et al, 1965;Jalbert et al, 1966;Bortolini et al, 1986). In all three cases, the stigmata of Turner's syn- Table 2.…”

Section: Discussionsupporting

confidence: 85%

“…Five cases have been reported, and three cases of them show mosaic karyotype of 45,X/ 46,XX or 45,X/46,XX/47,XXX (Ferrier et aI., 1965;Jalbert et al, 1966;Bortolini et al, 1986). The karyotype of other two cases was 45,X (Walton, 1957;Chelly et aI., 1986).…”

Section: Introductionmentioning

confidence: 99%

Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution

et al. 1987

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“…[5] However, the possibility of being affected with 2 relatively common inherited genetic conditions, although rare, should be considered when findings are incoherent with the primary diagnosis. Although the genetic etiology is different, dystrophinopathies have been reported in males with chromosomal abnormalities, more specifically DMD in Turner and Klinefelter syndrome, [14–16] and BMD in Noonan syndrome. [17] …”

Section: Discussionmentioning

confidence: 99%

A case report with the peculiar concomitance of 2 different genetic syndromes

et al. 2016

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Rationale:Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far.Patient Concerns:An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38–174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period.Diagnoses:Skeletal muscle biopsy revealed marked dystrophic changes with patchy immunostaining for dystrophin. The Duchenne muscular dystrophy gene was screened for deletions by multiplex polymerase chain reaction, but no mutations were found. Sequence analysis of the Duchenne muscular dystrophy gene revealed a splice-site mutation c.1812+1G>A in intron 15 and confirmed a diagnosis of Becker muscular dystrophy.Interventions:The patient has started a specific physiotherapy that avoided any deterioration in motor development and muscular wasting.Outcomes:A multidisciplinary follow-up was initiated. The genetician that followed the patient for DS was supported by the neurologist, the physiotherapist, the pulmonologist, and the cardiologist.Lessons:This peculiar “double trouble” case exemplifies the value of careful clinical evaluation and adequate clinical experience to identify the concomitance of 2 different genetic syndromes in the same patient, and it points out the significance of muscular strength assessment in DS patients to make the most correct prognosis, and, consequently, to organize the best long-term care.

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Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

Machin¹

1996

Am. J. Med. Genet.

297

161

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The use of the adjective “identical” rather than monozygotic leads to misunderstandings about the biology of monozygotic twinning. Most monozygotic twin pairs are not identical; there may be major discordance for birth weight, genetic disease, and congenital anomalies. These indicate that postzygotic events may lead to the formation of two or more cell clones in the inner cell mass and early embryo that actually stimulate the monozygotic twinning event. There is also evidence that there may be unequal allocation of numbers of cells to the monozygotic twins; this may have widespread implications for the cascade of developmental events during embryogenesis, formation, and vascularization of the placenta. Large‐scale zygosity testing at birth could be the template for analysis of twin outcomes and their biologic causes. © 1996 Wiley‐Liss, Inc.

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Duchenne muscular dystrophy in a girl with a 45, X/46, XX/47, XXX chromosome constitution

Cited by 12 publications

References 14 publications

Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution

Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution

A case report with the peculiar concomitance of 2 different genetic syndromes

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

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