Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome gene...Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome generally depends on the breakpoint location and also the level of mosaicism (45, X cell lines);in certain instances, these may not be detected and result in variations running between male, abnormal female, or ambiguity in individual genitalia. A referral was received from a urology clinic concerning two patients, one aged 34 and one aged 35, with a request to investigate reasons for infertility: G-banded karyotyping and fluorescence in situ hybridization (FISH) revealed the presence of an isodicentric Y chromosome.展开更多
Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. ...Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC（15）s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region （NOR） banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe ‘Angle Class Ⅱ, Division 1 Open Bite Deformity＇. The molecular cytogenetic study revealed the small sSMC（15）. In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.展开更多
The extra gonadal consequences of Turner’s Syndrome (TS) also pose risks to patients, namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary amenorrhea even wi...The extra gonadal consequences of Turner’s Syndrome (TS) also pose risks to patients, namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary amenorrhea even without typical physical characteristics. Interestingly, TS has uncommon variant forms with varying degrees of clinical manifestations. Even so, all TS and TS variants maintain a high risk for cardiovascular events. Therefore, early TS diagnosis is of utmost importance. Here, we present a case of a young, African-American woman with primary amenorrhea with few overt clinical signs of TS. With high clinical suspicion, genetic testing is pursued and demonstrates the TS variant. This is important because variant forms have a similar increased risk of premature hypertension, diabetes, and aortic dissection.展开更多
文摘Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome generally depends on the breakpoint location and also the level of mosaicism (45, X cell lines);in certain instances, these may not be detected and result in variations running between male, abnormal female, or ambiguity in individual genitalia. A referral was received from a urology clinic concerning two patients, one aged 34 and one aged 35, with a request to investigate reasons for infertility: G-banded karyotyping and fluorescence in situ hybridization (FISH) revealed the presence of an isodicentric Y chromosome.
文摘Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC（15）s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region （NOR） banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe ‘Angle Class Ⅱ, Division 1 Open Bite Deformity＇. The molecular cytogenetic study revealed the small sSMC（15）. In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.
文摘The extra gonadal consequences of Turner’s Syndrome (TS) also pose risks to patients, namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary amenorrhea even without typical physical characteristics. Interestingly, TS has uncommon variant forms with varying degrees of clinical manifestations. Even so, all TS and TS variants maintain a high risk for cardiovascular events. Therefore, early TS diagnosis is of utmost importance. Here, we present a case of a young, African-American woman with primary amenorrhea with few overt clinical signs of TS. With high clinical suspicion, genetic testing is pursued and demonstrates the TS variant. This is important because variant forms have a similar increased risk of premature hypertension, diabetes, and aortic dissection.
