Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Kim, H J; Hsu, Lillian Y. F.; Goldsmith, L C; Strauss, Lewis C.; Hirschhorn, Kurt

doi:10.1136/jmg.14.2.114

Cited by 24 publications

(11 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several partial 13q syndromes have been described in the literature, most of them as the result of an unbalanced translocation inherited from a progenitor (Crandall et al, 1974;Kim et al, 1977;Yanagisawa et al, 1978). Depending on the point of breakage there are widely variable clinical manifestations.…”

Section: Introductionmentioning

confidence: 99%

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

et al. 1999

View full text Add to dashboard Cite

Section: Introductionmentioning

confidence: 99%

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

et al. 1999

View full text Add to dashboard Cite

“…Thus, the patients of Aleck et al [1999] and Cantu et al [1981] suggest that a gene involved in sex determination might be located distally in qter. The discrepant localization suggested by the patient of Kim et al [1977] might be the result of the compounding effect of the duplication of 13 (q22 ! qter).…”

Section: Resultsmentioning

confidence: 96%

“…A 47,XX, þ22 karyotype was associated with a phenotypic male who, nonetheless, had a rudimentary vagina and uterus but [Nicholl et al, 1994]. Localized portions of chromosome 22 were triplicated in a patient who had duplication from pter to q11 and abnormalities of chromosome 13 [Kim et al, 1977]. The patient had a hypoplastic uterus and vagina with a testis and penis.…”

Section: Resultsmentioning

confidence: 98%

Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male

Erickson

Skinner

Jacquet

et al. 2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Several years ago, we presented a patient with true hermaphroditism and partial duplication of chromosome 22 and no evidence of SRY (Aleck et al. [1999: Am J Med Genet 85:2-4]). Recently a 46,XX male with velocardiofacial syndrome and a deletion of 22q11.2 and no evidence of Y chromosomal loci in blood DNA was reported (Phelan et al. [2003: Am J Med Genet 116A:77-79]). We have restudied this patient as he enters puberty. Because chromosomal deletions sometimes involve micro rearrangements of nearby material, we have extensively studied this individual's chromosome 22 looking for evidence of any gene duplication. We studied a number of variable number tandem repeat (VNTR) loci along chromosome 22 in the patient and both parents. Normal Mendelian inheritance of the VNTRs was found. We then used quantitative multiplex PCR of short fluorescent fragments (QMPSF) to delineate the 22q11.2 deletion in this patient (Jacquet et al. [2002: Hum Molec Genet 11:2243-2249]) and found a pattern of deletion typical of the velocardiofacial DiGeorge syndrome. Finally, the patient's DNA has been analyzed using a full coverage human chromosome 22 genomic microarray (array comparative genomic hybridization [CGH]) for evidence of rearrangements outside the classical velocardiofacial DiGeorge associated deletion (Buckley et al. [2002: Hum Molec Genet 11:3221-3229]). The array-CGH profile of this patient confirms the deletion encompassing the typically deleted region associated with the velocardiofacial DiGeorge syndrome and provides no support for additional gene copy number aberrations on 22q. Thus, there is no evidence of any chromosome 22 trisomic material. In this case, the rare events of sex reversal and 22q11.2 deletion may have occurred together by chance.

show abstract

“…However, Patau syndrome may be also caused by partial translocation or mosaicism [3][4][5][6]. Translocation arises de novo or is inherited from a parent who carries a balanced translocation [7].…”

mentioning

confidence: 99%

“…Trisomy 13 and 18 are associated with a high risk of miscarriage or stillbirth -about 80% [12,21], while about 15% of all pregnancies end in spontaneous abortion [22]. A case has also been reported of a neonate born after term (week 43) who weighed 3240 g [6]. The risk of fetal loss (i.e., spontaneous abortion or stillbirth) following prenatal diagnosis of trisomy 13 for the period between the 12 th and 40 th weeks of gestation is 49%; for the period between the 18 th and 40 th weeks it is 42%; and for the period between the 24 th and 40 th weeks it is 35% [23].…”

mentioning

confidence: 99%

Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

Pawelec¹,

Dżugalik²,

Pietras

et al. 2015

Adv Clin Exp Med

View full text Add to dashboard Cite

Patau syndrome was first described in 1960 as a group of birth defects caused by trisomy of chromosome 13 (T13). Providing accurate information and relevant reproductive genetic counseling that would allow parents to make informed decisions is not easily accomplished because of the limited information available prenatally. Only 1/3 of all cases of T13 are diagnosed prenatally, which means it cannot be expected that most cases will be detected early in pregnancy, that the parents will decide to terminate the pregnancy, and that difficulties will be avoided. There is no good prenatal screening for T13, and there are many kinds and degrees of anomalies. About 60% of cases are first detected in the second trimester, and life expectancy is difficult to predict. When patients choose not to terminate pregnancy, or when the pregnancy has progressed to a viable gestational age, pregnancy termination is no longer an option. Also, nowadays 12% of couples choose to continue pregnancy following chromosomal confirmation of a suspected T13. The aim of this work is to eludicate for health care providers what problems they are likely to face in the care of children with T13 and in contact with their parents. It is crucial for the management of each case to discuss neonatal procedures of resuscitation, alternatives to aggressive resuscitation, the possibilities for correcting some of the defects, and to be prepared to guide the parents through the trauma of having a child with a lethal defect (Adv Clin Exp Med 2015, 24, 5, 911-921).

show abstract

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Cited by 24 publications

References 16 publications

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male

Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

Contact Info

Product

Resources

About