One was evaluated neonatally during an adrenal crisis and misidentified as male; the second was unrecognized. Both were being reared as males when the true genotype was recognized during evaluation for cryptorchidism. The female internal genitalia were subsequently removed and testicular implants placed....
Noun1.phenotype- what an organism looks like as a consequence of the interaction of its genotype and the environment physical composition,composition,make-up,makeup,constitution- the way in which someone or something is composed Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Prin...
The genotype–phenotype correlation was analyzed in 35 patients because the sequences were not obtained in 2 of the 37 patients, 1 male and 1 female with paretic-side/normal-side ratios of cross-sectional areas of the superior oblique muscle as 0.9 and 0.19, respectively. RESULTS Phenotype–...
Channel catfish Ictalurus punctatus have an XX female-XY male genotypic system of sex determination, and male channel catfish grow faster than females. Through selective breeding and appropriately timed hormone administration, we have produced phenotypic male channel catfish with a YY sex genotype and...
All the patients with mutations in the SRD5A2 gene had male gender identity. Those reared as female had gender dysphoria and underwent gender reassignment. Though a specific genotype–phenotype correlation could not be established in our patient but confirming the diagnosis of 5RD2 with assessment ...
The first experiment of the present study analysed the influence of sexual genotype on phenotypic male growth rates. Males with three different sexual genotypes were produced: YY 100 (YY male×YY female), XY 100 (YY male×XX female) and XX 100 (hormonally sex-inverted females). They were ...
1D), BRCA1 Ex20dup was identified in a female who developed breast cancer (invasive ductal carcinoma, estrogen receptor positive (100%), HER2 normal expression) at 46 years (Fig. 1E, F2 IV:2). The family history of this patient did not provide obvious evidence for hereditary breast and ...
Dysgerminoma, gonadoblastoma, and testicular germ cell neoplasia in phenotypically female and male siblings with 46 XY genotype 46 XY gonadal dysgenesis is a syndrome characterized by a female phenotype with streak gonads and complicated by the frequent occurrence of germ cell tumor... AC Kingsbury...
In 14 patients, 13 females and one male, a PORCN mutation was found. Mutations included nonsense (n=5), frameshift (n=2), aberrant splicing (n=2), and missense (n=5) mutations. No genotype-phenotype correlation could be found. All patients with the classical features of the syndrome ...
8 ⅐ No. 7 article Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum Santhosh Girirajan, MBBS1, Christopher N. Vlangos, PhD2*, Barbara B. Szomju, BS3, Emily Edelman, BS1, Christopher D. Trevors, MS4,...