Prenatal ultrasonic manifestations and prognostic analysis of 17q12 microdeletion syndrome / 中华超声影像学杂志

Objective To summarize and analyze the prenatal ultrasonic manifestations of 17q12 microdeletion syndrome ,so as to provide help for prenatal diagnosis . Methods It carried out a retrospective analysis of 21 cases of 17q12 microdeletion syndrome prenatally confirmed by chromosomal microarray analysis(CMA) in the third affiliated hospital of Zhengzhou University from 2015 .01 to 2018 .05 . Prenatal ultrasound findings were collected . A close follow-up was given for the cases . Results Of the 21 fetus ,20 cases were presented with bilateral hyperechogenic kidneys ,and 1 case showed duodenal obstruction . There were 4 cases accompanied with polyhydramnios ,8 cases with mild polyhydramnio ,and 9 cases with normal amniotic fluid index . Parents of 6 fetus underwent chromosomal examination ,of which 2 cases were inherited from the mother and 4 cases had new chromosomal mutations;Seven cases had a family history of diabetes and 3 cases had a family history of kidney disease;Twelve cases performed induced labor ,2 cases lost follow-up and 1 case was unborn . Six cases were born ,of the 6 cases ,1 case associated with mild dysmorphic facial features , and 1 case associated with bilateral renal cysts . Conclusions 17q12 microdeletion syndrome has specific prenatal ultrasound characteristics ,while echogenic kidneys are of great value in the diagnosis of 17q12 microdeletion syndrome prenatally .

A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia

Among hematologic diseases, structural abnormalities of autosomal chromosomes are well-known, but cases involving the sex chromosomes are uncommon. Duplications of the long arm of chromosome 1 have been reported in several hematologic diseases including myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia, and Burkitt lymphoma. However, dup(1q) as a der(Y)t(Y;1)(q12;q12) is very rare. Here, we report a case of essential thrombocythemia harboring der(Y)t(Y;1)(q12;q12) with literature review.

Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

Síndrome de Townes-Brocks, depresión y adicción a inhalantes: a propósito de un caso / Townes-Brocks syndrome (TBS), major depression and inhalant addiction: a case report

El síndrome de Townes-Brocks (TBS) es un trastorno autosómico dominante con múltiples malformaciones y de expresión variable. Presentamos el caso de una mujer de 22 años de edad con malformaciones en el oído externo, ano imperforado, riñones en herradura, desviación cubital del pulgar, sindactilia en los dedos de ambos pies, estrabismo, útero bicorne y retardo mental; quien desarrolló distimia, depresión mayor y adicción a inhalantes.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. We present a case of a 22-year-old woman with external ear malformations, imperforate anus, renal fusion, ulnar deviation of the thumbs, syndactyly in toes, strabismus, uterus bicornis and mental retardation who developed dysthymia, major depression and inhalant addiction.

A Case of Clear Cell Sarcoma showing t(12;22)(q13;q12) in Chromosomal Study / 대한피부과학회지

Clear cell sarcoma is a melanoma of soft parts and a rare dermal nodule of tissue with unknown origin. It mainly affects young adults with a predominance in women, and the predilection sites are extremities, especially foot and ankle. The cytogenic hallmark of clear cell sarcoma is the presence of the t(12;22)(q13;q12). This translocation has been described in the majority of reported clear cell sarcoma cases, however not in other malignancies. And this method has not been popular in dermatology, so we present a case of clear cell sarcoma which was identified the presence of translocation.

De novo Fetal Chromosomal Abnormalities after Assisted Reproductive Technology / 대한산부인과학회잡지

We experienced two cases of de novo fetal chromosomal abnormalities after assisted reproductive technology (ART): One case was reciprocal translocation 46,XX,t(6;14)(p21.3;q12) after intracytoplasmic sperm injection and embryo transfer (ICSI-ET) and the other case was 46,X,iso(Xq) after in vitro fertilizaton and embryo transfer (IVF-ET), both were diagnosed prenatally by amniocentesis and postnatally cord blood culture. We report these cases with a brief review of literatures.