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A marker chromosome, abbreviated as mar by iscn 2013, is a structurally abnormal chromosome. Such marker chromosomes are mainly detected by conventional banding cytogenetics. 46xx not done cah ambiguous genitalia 21-hydroxylase deficiency female pseudohermaphroditism 4 13 normal female, enlarged rectum yes 46xx normal 17-ohp ursms ursms anal atresia, vesico-rectal fistula 27 pseudo phallus, enterolithiasis 5 24 pseudo phallus yes 46xx normal 17-ohp ursms ursms-ex male pseudohermaphrodism 6 13. With the recent advances in prenatal diagnosis, particularly, prenatal ultrasound (us) techniques, a variety of fetal genitalia abnormalities can be detected as early as 1316 wk of pregnancy (1, 2). At the same time, the widespread use of genetic amniocentesis has resulted in an increased number of mismatches between the chromosome analysis, often performed routinely for reasons not. case 7 had an extra dicentric chromosome 22, however, analysis for ces critical region could not be done due to the insufficient amount of specimen. Furthermore, we were unable to obtain detailed clinical information regarding the presence or absence of major ces phenotypes including ocular coloboma, anal atresia, and renal malformations. five families were linked to d22s345 from chromosome 22q11. This represents the first classic multiple congenital anomaly syndrome with an x. Mcgee, jessica horne, in encyclopedia of reproduction (second edition), 2018. Atresia in biology generally means the closing or failure to open of a tubular structure such as with vaginal atresia or esophageal atresia. However, follicle atresia has come to mean the failure of a follicle to develop to ovulate and release an egg. Her chromosomal workup identified a 46,xx,inv(9) (p11q13) with a pericentric inversion of 1 chromosome 9 of unknown clinical relevance. A 17-year-old patient was diagnosed with left renal agenesis, scoliosis, strabismus, a fistula of the ear, anal atresia, and cat-eye syndrome. Her karyotype was 47,xx,mar1346xx2 including a marker chromosome. Fibronectin glomerulopathy is a rare, inherited, autosomal dominant, glomerular disease characterized by proteinuria, microscopic hematuria, hypertension, massive glomerular deposits of fibronectin, and slow progression to end-stage renal failure. Because the incident of fibronectin glomerulopathy is extremely low, the pathophysiology, genetic abnormalities, epidemiology, and mechanisms remain. Structural chromosome abnormalities include breaks in chromosome arms. The most common abnormalities are terminal deletions of pieces from one end of a chromosome or interstitial deletions within an arm inversions, either pericentric (including the centromere) which can change the shape of the chromosome or paracentric (in one arm) which will not isochromosomes which are believed to result. From genomic imbalances associated with developmental abnormalities of the female genital tract to the molecular mechanisms underpinning endometriosis and uterine leiomyomatosis, new technologies have allowed the exploration of the genetic contribution and mapping the molecular pathways underpinning common and rare gynaecological conditions.