Trisomy 9 mosaicism in a child with a tethered cord

Nm, Lindor; Vv, Michels; Jalal, Syeed M.; Shaughnessy, William J.

doi:10.1097/00019605-199504000-00010

Cited by 2 publications

(4 citation statements)

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“…Our review of the PubMed, Scirus, Embase, Cochrane Library, Lilacs and SciELO databases using specific descriptors can be seen in Table 1 . An additional chromosome 9 in blood tests, which was not detected in other tissues such as the skin, 6 as observed with patient 1, or only identified in fibroblasts, 7 has been described in the literature. Schwartz et al, evaluating different tissues, such as hepatic, pulmonary and heart cells, demonstrated high variability of the mosaicism found in a single individual with mosaic trisomy 9.…”

Section: Discussionmentioning

confidence: 59%

“… 6 This has only been investigated in a few cases of mosaic trisomy 9, and in our review, we found only one report with this abnormality. 6 , 7 Additionally, uniparental disomy of chromosome 9 alone has been rarely reported. All the cases were of maternal uniparental disomy, and the patients described presented features of autosomal recessive diseases, such as cartilage-hair hypoplasia and Leigh syndrome, for which the genes are located in chromosome 9.…”

Section: Discussionmentioning

confidence: 99%

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New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

Zen

Rosa

et al. 2011

Sao Paulo Med. J.

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Novo relato de dois pacientes com a trissomia do 9 em mosaico apresentando achados não usuais e uma sobrevida prolongada . Additional cytogenetic assessment of the skin showed normal results. The second patient was a two-year-old girl who was initially assessed at five months of age, when she presented weight of 5.3 kg (< P3), height of 61.5 cm (P2-P10), head circumference of 40.5 cm (P25), sparse hair, micrognathia, right ear with overfolded helix and preauricular pit, triphalangeal thumbs and sacral dimple. She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder. Her lymphocyte karyotype was mos 47,XX,+9[3]/46,XX [69]. Both patients had unusual clinical findings (the first, hemifacial hypoplasia associated with microtia, with a phenotype of oculo-auriculo-vertebral spectrum, and the second, triphalangeal thumbs and hearing loss) and survival greater than what is usually described in the literature (< 1 year). Further reports will be critical for delineating the clinical features and determining the evolution of patients with mosaic trisomy 9.resUMo CONTEXTO: A trissomia do cromossomo 9 em mosaico é considerada uma anormalidade cromossômica rara e com limitada sobrevida. Nosso objetivo foi realizar o relato de dois pacientes com trissomia do 9 em mosaico, apresentando achados não usuais e sobrevida prolongada. RELATO DE CASOS: O primeiro paciente era um menino de seis anos e cinco meses apresentando peso de 14,5 kg (< P3), altura de 112 cm (P10), perímetro cefálico de 49 cm (P2), proeminência frontal, face triangular e assimétrica, lábios finos, microtia à direita com hélix sobredobrado, mãos pequenas, micropênis (< P10), testículos pequenos e hálux valgo. Seu cariótipo em linfócitos foi mos 47,XY,+9[4]/46,XY [50]. O estudo citogenético complementar da pele foi normal. A segunda paciente era uma menina de dois anos, avaliada inicialmente aos cinco meses, quando apresentava peso de 5,3 kg (< P3), estatura de 61,5 cm (P2-P10), perí-metro cefálico de 40,5 cm (P25), cabelos esparsos, micrognatia, orelha direita com sobredobramento do hélix e fosseta pré-auricular, polegares trifalangeanos e fosseta sacral. Ela possuía também história de cardiopatia congênita, perda auditiva, hipotonia, atraso do desenvolvimento neuropsicomotor e distúrbio da deglutição. Seu cariótipo de linfócitos foi mos 47,XX,+9[3]/46,XX [69]. Os dois pacientes apresentam achados clínicos não usuais (o primeiro, hipoplasia hemifacial associada à microtia lembrando um fenótipo de espectro óculo-aurículo-vertebral, e o segundo, polegares trifalangeanos e perda auditiva) e uma sobrevida maior àquela usualmente descrita na literatura (< 1 ano). Mais relatos serão fundamentais para delinear o quadro clínico e determinar a evolução de pacientes com trissomia do 9 em mosaico.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

Zen

Rosa

et al. 2011

Sao Paulo Med. J.

View full text Add to dashboard Cite

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“…However, an association between anencephaly and holoprosencephaly, which occurs more often than one would expect by chance, has been described and is considered by some as a severe variant of holoprosencephaly [Moore et al, 1996; Bird et al, 1997]. Trisomy 9 has been described in fetal losses with spina bifida on several occasions [Lindor et al, 1995; Seller et al, 1998].…”

Section: Chromosome Anomaliesmentioning

confidence: 99%

“… References: Creasy and Alberman [1976]; Byrne and Warbuton [1986]; McFadden and Kalousek [1989]; Rodriguez et al [1990]; Harmon et al [1995]; Lindor et al [1995]; Seller [1995]; Hume et al [1996]; Coerdt et al [1997]; Hall and Solehdin [1998]; Seller et al 1998, 2004; Donaldson et al [1999]. …”

Section: Chromosome Anomaliesmentioning

confidence: 99%

Non‐multifactorial neural tube defects

Lynch

2005

American J of Med Genetics Pt C

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Although most neural tube defects (anencephaly, spina bifida) occur as isolated malformations, a substantial proportion are attributable to chromosome anomalies, known teratogens, or component manifestations of multiple anomaly syndromes. This review describes known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural tube defects and causative genes, if known. ß 2005 Wiley-Liss, Inc.

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Trisomy 9 mosaicism in a child with a tethered cord

Cited by 2 publications

References 0 publications

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

Non‐multifactorial neural tube defects

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