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Prenatal diagnosis of mosaic tetrasomy 18p

To report the case of a prenatally detected de novo mosaic tetrasomy 18p where a combination of different methodologies was used,including conventional cytogenetics and molecular genetics techniques. METHOD: Molecular rapid aneuploidy diagnosis, by quantitative fluorescent polymerase chain reaction (QF-PCR), conventional cytogenetics and fluorescence in situ hybridization (FISH). RESULTS:Amniocentesis was perfo...

A complex chromosomal rearrangement in a child with developmental delay, fracti...

Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred...

A "de novo" inv dup del(6q) - a case report

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

A de novo complex chromosome rearrangement (CCR) involving chromosome 5, 6 and 15

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

9q34.3 microdeletion by MLPA in a fetus with cardiac defects

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

The Clinical Laboratory Genetics profession in Portugal

Abstrat publicado em: European Journal of Human Genetics. 2003;21(Suppl 2):413

Interstitial dup(6)(q22.3q24) characterized by cCGH resulting from familial inv...

Abstrat publicado em: European Journal of Human Genetics. 2003;21(Suppl 2):480

A case of de novo complex chromosomal abnormality involving a t(8;10) and an in...

Interstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occurrences. The clinical features of patients carrying similar deletions include dysmorphic facial features, such as epicanthus, retrognatia, protruding left ear and asymmetric mouth, high-arched palate, four inger lines and clinodactyly of digits II and V on both hands. We report on a female child aged 13 presentin...

Nova abordagem Metodológica no Estudo do CATCH22

Prenatal Investigation of a Familial Partial Monosomy 10q

Objective: To present the clinical, cytogenetic and molecular findings of a prenatal study of a familial partial monosomy 10q. Distal 10q deletions are rare and the majority are terminal deletions involving bands 10q25 and 10q26. Patients typically present with facial dysmorphism, postnatal growth retardation, developmental and mental retardation, genitourinary anomalies and digital anomalies. Methods: Conventi...