Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985–2004

Lin, Hsiang‐Yu; Lin, Shuan‐Pei; Chen, Yen-Jiun; Hsu, Chyong-Hsin; Kao, Hsin-An; Chen, Ming–Ren; Hung, Han-Yang; Ho, Che‐Sheng; Chang, Jui‐Hsing; Huang, Fu‐Yuan; Tsai, Tsuen‐Chiuan; Lin, Dar-Shong; Chan, Wai-Tao

doi:10.1111/j.1442-200x.2007.02377.x

Cited by 39 publications

(60 citation statements)

References 25 publications

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“…The published cases of partial trisomy 13q helped to delineate the variable phenotype associated with this chromosomopathy (Rivas et al, 1984;Tharapel et al, 1986;Nikolis et al, 1991;Rodriguez de Alba et al, 1999;Chen et al, 2005a,b;Lin et al, 2007;Ribacoba et al, 2008). Common phenotypic features described for partial trisomy 13q are: craniofacial dysmorphism (bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, microcephaly, and hypotelorism), highly arched palate, short neck, hemangioma, hexadactyly, urinary tract/ kidney anomalies, umbilical/inguinal hernia, intra-uterine growth retardation, and oligohydramnios.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Machado¹,

Heinrich²,

Campanhol³

et al. 2010

Genet. Mol. Res.

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ABSTRACT. Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood were performed. Cytogenetic analysis of fetal blood displayed 46,XX,add(4) (q28). The parental karyotypes were normal. A girl was delivered at 34 weeks gestation; she died within 2 h. Autopsy confirmed all the prenatal findings and also showed agenesis of the diaphragm. Spectral karyotyping identified the additional material's origin as chromosome 13. aCGH was carried out and showed amplification of distal regions of the long arm of chromosome 13 from region 13q14 to qter. This is the first report of a fetus with molecular characterization of a partial trisomy 13q (q14→qter), present as a de novo unbalanced translocation at chromosome 4q. This case demonstrates the usefulness of molecular characterization of malformed fetuses for prenatal diagnosis and counseling.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Machado¹,

Heinrich²,

Campanhol³

et al. 2010

Genet. Mol. Res.

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“…[Lin et al, 2007;Petry et al, 2013]. Many infants also present with cardiac anomalies including patent ductus arteriosus (PDA) or ventricular septal defect (VSD), respiratory difficulties including central apnea and upper airway problems and feeding difficulties [Rios et al, 2004;Pont et al, 2006;Hsu and Hou, 2007;Jones et al, 2013].…”

Section: Introductionmentioning

confidence: 99%

“…In addition, Crider et al [2008] and Irving et al [2011] describe a rise in pregnancies with trisomy 13 coupled with lower prevalence rate due to prenatal diagnosis and terminations. For live births, survival is often presented in days or week increments [Brewer et al, 2002;Rasmussen et al, 2003;Lin et al, 2007;Crider et al, 2008;Vendola et al, 2010]. The population indicates less than one in 10 children reach their first birthday [Irving et al, 2011;Lakovschek et al, 2011;Sibidue et al, 2011;Wu et al, 2013].…”

Section: Introductionmentioning

confidence: 99%

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions

Bruns

Campbell

2014

American J of Med Genetics Pt A

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Trisomy 13 (Patau syndrome), identified by Patau and colleagues [1960; Lancet 1: 790-793] is the third most common autosomal condition. Population studies indicate less than one in 10 children reaches their first birthday. In the face of mixed findings and recommendations for treatment, additional research is needed to further determine what contributes to longevity and implications for treatment for presenting medical conditions. The purpose of the present study is to report on presenting medical conditions and the presence or absence of the specific conditions (age at survey completion). Data on nine survivors (seven female, two male) with trisomy 13 indicated mean gestational age of approximately 36 weeks, birth weight ranging from 1100 to 3290 g and mean length of 45.3 cm. Length of hospital stay after birth varied. The majority of infants presented with well-known physical characteristics. Medical conditions and their treatment varied at birth and at survey completion. Notably, several infants' cardiac anomalies resolved without surgical intervention. Surgeries were provided for a range of conditions including gastrostomy tube placement to address feeding issues and removal of intestinal blockage. There were no reports of holoprosencephaly. Implications and recommendations are provided.

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“…The few infants who survive the first six months of life usually die due to heart failure or concomitant infections. Most affected children die before the age of one year; fewer than 10% survive the first year [11,18,19]. Statistically, in 74 cases of Patau syndrome, the mean survival time was 89.2 ± 29.9 days [11].…”

mentioning

confidence: 99%

Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

Pawelec¹,

Dżugalik²,

Pietras

et al. 2015

Adv Clin Exp Med

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Patau syndrome was first described in 1960 as a group of birth defects caused by trisomy of chromosome 13 (T13). Providing accurate information and relevant reproductive genetic counseling that would allow parents to make informed decisions is not easily accomplished because of the limited information available prenatally. Only 1/3 of all cases of T13 are diagnosed prenatally, which means it cannot be expected that most cases will be detected early in pregnancy, that the parents will decide to terminate the pregnancy, and that difficulties will be avoided. There is no good prenatal screening for T13, and there are many kinds and degrees of anomalies. About 60% of cases are first detected in the second trimester, and life expectancy is difficult to predict. When patients choose not to terminate pregnancy, or when the pregnancy has progressed to a viable gestational age, pregnancy termination is no longer an option. Also, nowadays 12% of couples choose to continue pregnancy following chromosomal confirmation of a suspected T13. The aim of this work is to eludicate for health care providers what problems they are likely to face in the care of children with T13 and in contact with their parents. It is crucial for the management of each case to discuss neonatal procedures of resuscitation, alternatives to aggressive resuscitation, the possibilities for correcting some of the defects, and to be prepared to guide the parents through the trauma of having a child with a lethal defect (Adv Clin Exp Med 2015, 24, 5, 911-921).

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Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985–2004

Cited by 39 publications

References 25 publications

Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions

Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

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