A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

Sahoo, Trilochan; Naeem, Rizwan; Pham, Kim; Chheng, Sou; Noblin, Sarah T.; Bacino, Carlos A.; Gambello, Michael J.

doi:10.1002/ajmg.a.30535

Cited by 7 publications

(3 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Abnormalities in the forearms and hand positioning were described in another case11 with an isochromosome 18q without HPE, but not in ours. Although the mother in our case is 37 years old, reviewing the other reported cases, it is unlikely that there is an association between isochromosome 18q and increased maternal age 1.…”

Section: Discussioncontrasting

confidence: 62%

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

et al. 2011

View full text Add to dashboard Cite

We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis. After counseling, termination of pregnancy was performed by vaginally administered misoprostol. Karyotyping of amniotic fluid cells revealed an isochromosome 18q, resulting in a trisomy 18q and monosomy 18p. A stillborn female of 390 g with several congenital anomalies was born. Postmortem examination demonstrated several anomalies including the HPE, cyclopia, double fused eye, absence of the nose, and the presence of a proboscis. In the literature only a few cases have been published.

show abstract

Section: Discussioncontrasting

confidence: 62%

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Most notably, these include Fanconi anemia and some subtypes of VACTERL association [Shaw‐Smith, 2006]. Interestingly, a number of additional diagnoses combine both of these findings including, thrombocytopenia with absent radii (TAR) [Hall et al, 1969], amegakaryocytic thrombocytopenia with radio‐ulnar synostosis [Thompson et al, 2001] and several rarer reports combine limb anomalies and associated thrombocytopenias [von Bubnoff et al, 2004; Sahoo et al, 2005; Kranz et al, 2007]. Based on these observations, we also hypothesized that one of the common underlying mechanisms for these disorders of thrombocytopenia and limb anomalies, including CdLS, may also involve deficiencies in DNA damage repair.…”

Section: Introductionmentioning

confidence: 99%

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

Lambert

Jackson

Clark

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Thrombocytopenia was first reported in Cornelia de Lange Syndrome (CdLS) by Froster in 1993. Despite early reports, thrombocytopenia has been rarely reported in this disorder. We performed a retrospective analysis of a large cohort of patients with CdLS. We calculated prevalence of thrombocytopenia in 3 subsets of this cohort: the entire cohort (n=1740), a subset of subjects with substantial clinical records (n=695) and a subset of subjects with clinical information regarding platelet counts (n=85). This analysis revealed that 15 have had thrombocytopenia (18% of those with available blood counts); seven had Immune ThrombocytoPenia (ITP). The reported prevalence of pediatric ITP is between 5-13 per 100,000 persons. The prevalence of ITP in this cohort is between 7/1740 and 7/85, giving a relative risk of ITP of between 30 (CI 12 to 77) and 633 (CI 259-1549). Contrary to the reported cases in the literature, none of our patients have had progression of the thrombocytopenia nor have they developed other cytopenias. All 15 patients with thromobocytopenia had CdLS based on clinical criteria. Of the 10 patients tested for mutations in NIBPL, eight had mutations identified. These data support an increased incidence of thrombocytopenia and ITP in CdLS. Subsequently, patients are at risk for spontaneous hemorrhage, and likely increased risk secondary to the high frequency of self-injurious behavior. Although further studies are needed to better define the scope of the problem and to define the mechanisms of thrombocytopenia in CdLS, we would recommend screening for thrombocytopenia upon diagnosis and at five-year intervals thereafter.

show abstract

“…Isochromosome formation is known to have multiple possible mechanisms: either by a transverse misdivision of the centromere or by breakage in the pericentromeric region followed by U-type reunion of the sister chromatids. This results in monocentric or dicentric products [Sahoo et al, 2005]. A well-characterized isochromosome 17q revealed a breakpoint cluster region in 17p11.2 due to a specific genomic architecture rich in segmental duplications [Lupski and Stankiewicz, 2005].…”

Section: Discussionmentioning

confidence: 99%

Instability of Isochromosome 4p in a Child with Pure Trisomy 4p Syndrome Features and Entire 4q-Arm Translocation

Pota¹,

Grammatopoulou²,

Torti³

et al. 2014

Cytogenet Genome Res

View full text Add to dashboard Cite

Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.

show abstract

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

Cited by 7 publications

References 36 publications

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

Instability of Isochromosome 4p in a Child with Pure Trisomy 4p Syndrome Features and Entire 4q-Arm Translocation

Contact Info

Product

Resources

About