Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.

Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma gene 1 (PLAG1) proto-oncogene on chromosome 8q12. Here, we report on a LPB case on which showed evidence of chromothripsis.

Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy.

Introduction: Transient abnormal myelopoiesis (TAM) is a transient, clonal myeloproliferative disorder unique to Down Syndrome (DS) babies. It is characterized by increased peripheral blasts and presence of mutation. The clinical spectrum ranges from jaundice and hepatosplenomegaly to multi-organ failure and death.

Duplication of 5q15-q23.2: case report and literature review.

Background: Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication.

Case: We present a 4.5-year-old girl with a de novo direct duplication of chromosome 5q15-q23.

Prenatal diagnosis of trisomy 3 mosaicism.

Objectives: To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed trisomy 3 mosaicism.

Case And Methods: Trisomy 3 mosaicism is rare, and only two cases of prenatally diagnosed trisomy 3 mosaicism have been reported. Amniocentesis, performed for AMA, revealed a karyotype of 47,XX, + 3[8]/46,XX[27].