A family case of fertile human 45,X,psu dic(15;Y) males [PDF]
, 2006 We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M +29 more
core +1 more source
Multidirectional chromosome painting substantiates the occurrence of extensive genomic reshuffling within Accipitriformes. [PDF]
, 2015 BACKGROUND: Previous cross-species painting studies with probes from chicken (Gallus gallus) chromosomes 1-10 and a paint pool of nineteen microchromosomes have revealed that the drastic karyotypic reorganization in Accipitridae is due to extensive ...
Beiyuan Fu +10 more
core +4 more sources
FLT3 Length Mutations as Marker for Follow-Up Studies in Acute Myeloid Leukaemia [PDF]
, 2004 Length mutations within the FLT3 gene (FLT3-LM) can be found in 23% of acute myeloid leukaemia (AML) and thus are the most frequent mutations in AML. FLT3-LM are highly correlated with AML with normal karyotype and other cytogenetic aberrations of the ...
Haferlach, Torsten +4 more
core +1 more source
The outcomes of pregnancy and delivery in the infants with positive karyotype test results for Down syndrome manifestation [PDF]
Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān, 2022 Introduction: Down syndrome is considered as one of the most important causes of abortion. Considering to the high prevalence of this syndrome, it is necessary to study the frequency of non-abortion and awareness of the reasons and motivations of parents
Ghazal Ghasemi +5 more
doaj +1 more source
Multicolor chromosome bar codes [PDF]
, 2006 Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core +1 more source
Ciencias Marinas, 1998 The cytogenetic study of the interspecific larval hybrid of Crassostrau virginica and Crassostrea rhizophorae has been conducted. The chromosome complements in all the types of hybrids assayed were integrated in a normal way to form the zygote and the ...
F Rodríguez-Romero +2 more
doaj +1 more source
Phylogenetic inferences of Atelinae (Platyrrhini) based on multi-directional chromosome painting in Brachyteles arachnoides, Ateles paniscus paniscus and Ateles b. marginatus [PDF]
, 2005 We performed multi-directional chromosome painting in a comparative cytogenetic study of the three Atelinae species Brachyteles arachnoides, Ateles paniscus paniscus and Ateles belzebuth marginatus, in order to reconstruct phylogenetic relationships ...
C. Nagamachi +17 more
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A rare presentation of the Klinefelter's syndrome [PDF]
, 2003 A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
core +2 more sources
Measured parental height in Turner syndrome—a valuable but underused diagnostic tool [PDF]
, 2017 Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation.
Cizmecioglu, Filiz Mine +6 more
core +1 more source
Frontiers in Oncology, 2022 Myelodysplastic syndrome (MDS) is a hematological disorder characterized by abnormal stem cell differentiation and a high risk of acute myeloid leukemia transformation.
Arlindo A. Moura +34 more
doaj +1 more source