A case of partial trisomy 3q

Chiyo, Hideaki; Kuroki, Yosikazu; Matsui, Isao; Niitsu, Naoki; Nakagome, Yasuo

doi:10.1136/jmg.13.6.525

Cited by 27 publications

(15 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Reciprocal translocation is the most frequent parental chromosome anomaly. In our case, parental chromosome analysis demonstrated a maternal pericentric inversion of chromosome 3 (46, XX, inv (3) (p26q21) • Renal anomalies (Blumberg, 1980) • Renal cystic dysplasia (Blumberg, 1980) • Renal cortical cysts (Chiyo, 1976;Fear, 1979) • Unilateral renal agenesis (Blumberg, 1980) • Renal calcification (Ismail, 1991) • Adrenal neuroblastoma (Qureshi, 1994) • Malrotation (Blumberg, 1980) • Lung hypoplasia (Blumberg, 1980;Qureshi, 1994) • Omphalocele (Mulcahy, 1979;Chen, 1996;Yatsenko, 2003;Park, 2008) Central nervous • Dandy-Walker malformation (Chiyo, 1976; de Azevedo Moreira, 2005) Ventriculomegaly system • Cerebellar hypoplasia (Steinbach, 1979) • Arhinencephaly (Steinbach, 1979) • Hypoplasia of corpus callosum (Steinbach, 1979) • Microcephally (Blumberg, 1980) • Spina bifida (de Azevedo Moreira, 2005; Gimelli, 2007) Genital system • Hypospadias (Fryns, 1984) • Bicornuate uterus (Chiyo, 1979;Blumberg, 1980) • Streak ovaries (Blumberg, 1980) • Duplication of the vagina and cervix (Blumberg, 1980) • Ambiguous genitalia (Gimelli, 2007) Anal anomalies • Anteriorly placed anus (Fryns, 1979) • Anal stenosis (Gustashaw, 1985) …”

Section: Discussionmentioning

confidence: 49%

See 1 more Smart Citation

Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype

Arıkan¹,

Coşkun²,

Arıkan³

et al. 2010

J Turkish German Gynecol Assoc

View full text Add to dashboard Cite

Trisomy 3q is a very rarely reported chromosomal disorder. Duplication of part of the long arm of human chromosome 3 causes a distinct and severe syndrome that leads to multiple congenital abnormalities. A 27 year-old pregnant woman was admitted to our clinic at 17 weeks of gestation. Prenatal sonography identified a fetus with an omphalocele that contained the liver and bowel , mild ventriculomegaly and polyhydramnios. Amniocentesis revealed the karyotype of 46, XY, der (3) (3qter→3q21: : 3pter→3qter). The pregnancy was subsequently terminated. Postnatally, the proband showed midfacial hypoplasia, micrognathia, hypoplastic 12th ribs, omphalocele and prominent heels. We reported this partial trisomy 3q case because he had less marked malformations compared to other reported cases and also different features such as an omphalocele and hypoplastic 12th rib which have not been described previously in an isolated Trisomy 3q case with this karyotype. (J Turkish-German Gynecol Assoc 2010; 11: 228-32) Key words: Partial Trisomy 3q, omphalocele, amniocentesis Received: 16 December, 2009 Accepted: 11 February, 2010 Trizomi 3q nadir görülen bir kromozom anomalisidir. İnsan 3. kromozomunun uzun kolunun bir kısmının duplikasyonu multipl kongenital anormalliklerle birlikte olan farklı ve ciddi bir sendroma yol açar. Abstract ÖzetCase Report 228

show abstract

Section: Discussionmentioning

confidence: 49%

“…• Fifth-finger clinodactyly (Chiyo, 1976;Fear,1979;Blumberg, 1980; Zafra de la Rosa, 2005; Gimelli, 2007)…”

Section: Discussionmentioning

confidence: 99%

Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype

Arıkan¹,

Coşkun²,

Arıkan³

et al. 2010

J Turkish German Gynecol Assoc

View full text Add to dashboard Cite

show abstract

“…An inversion was present in one (Hirschhorn et al, 1973) and the remaining 5 were the result of reciprocal translocations involving 3q with other chromosomes. Nevertheless, we note that 3 cases have similar break points (3q21) (Hirschhorn et al, 1973;Chiyo et al, 1976;present case). It may be significant that they have a similar clinical pattern.…”

Section: Discussionmentioning

confidence: 66%

“…Features in the present case not previously described are microphthalmia and meningomyelocele. In these 6 cases of partial trisomy 3q, 3 died Hirschhorn et al, 1973;Chiyo et al, 1976) and 3 survived into childhood (Clarke et al, 1964;Schwanitz et al, 1977). The survivors did not have the gross abnormalities of heart and brain which were incompatible with life but they all had hypotonia, epilepsy, and moderate mental retardation.…”

Section: Case Reportmentioning

confidence: 99%

Familial partial trisomy of the long arm of chromosome 3 (3q).

Fear¹,

Briggs²

1979

Archives of Disease in Childhood

View full text Add to dashboard Cite

SUMMARY A case of partial trisomy of the long arm of chromosome 3 (3q21-÷qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities ofvertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. New features noted in this present case are absence of right eye from orbit and spina bifida. The spectrum of this syndrome is discussed, with possible relation to the degree of trisomy. The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3. Case reportThe propositus (Fig. 1) was the result of a 3rd pregnancy of the mother; she had had 2 phenotypically normal children from a previous marriage. The pregnancy was noted for small fetal size, lack of intrauterine movements, and recurrent small antipartum haemorrhages. Urinary oestriol excretion was low throughout the pregnancy. The child was delivered by emergency caesarean section when the mother presented in labour with a fetal heart rate of 80.The child, a girl, with multiple congenital anomalies, died soon after delivery. Clinical features included: a square-shaped face; wide nasal bridge and everted nostrils; small malformed and malpositioned ears; absence of right eye; high arched palate; a short webbed neck; clinodactyly of the 5th fingers; lumbar meningomyelocele with congenital dislocation of both hips, and bilateral talipes equinovarus. X-ray of the chest showed hypoplasia of the right first rib.Necropsy (Guy's Hospital, no. 362/76) (Dr J. Heaton) showed absence of the roof of the right orbit and the dysplastic right eye was found in the anterior cranial fossa. Large anterior and posterior sagittal fontanelles separated the bones of the vault of the skull. The brain (250 g) was sectioned to show

show abstract

“…3 (3g210o -~ 3g2700) . Chiyo et al (1976) reported a case trisomic for the segment of the long arm of 3821-; 3gter. The duplication in our case was found to involve the showing partial duplication of 46,XX,dir dup(3)(g22-~q27).…”

mentioning

confidence: 99%