Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies
Interstitial deletions encompassing chromosome bands 1p32.1p32.3 are rare. Only nine unrelated patients with partially overlapping 1p32.1p32.3 deletions of variable size and position have been reported to date. We report on a 17-month-old boy with choanal atresia, hearing loss, urogenital anomalies,...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
10 June 2015
|
| In: |
American journal of medical genetics
Year: 2015, Jahrgang: 167, Heft: 10, Pages: 2406-2410 |
| ISSN: | 1552-4833 |
| DOI: | 10.1002/ajmg.a.37178 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/ajmg.a.37178 Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37178 
|
| Verfasserangaben: | Martin Kehrer, Karin Schäferhoff, Michael Bonin, Anna Jauch, Andrea Bevot, and Andreas Tzschach |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1703821904 | ||
| 003 | DE-627 | ||
| 005 | 20230426114725.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200707s2015 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/ajmg.a.37178 |2 doi | |
| 035 | |a (DE-627)1703821904 | ||
| 035 | |a (DE-599)KXP1703821904 | ||
| 035 | |a (OCoLC)1341344671 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Kehrer, Martin |d 1968- |e VerfasserIn |0 (DE-588)115713883 |0 (DE-627)691534594 |0 (DE-576)177546794 |4 aut | |
| 245 | 1 | 0 | |a Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies |c Martin Kehrer, Karin Schäferhoff, Michael Bonin, Anna Jauch, Andrea Bevot, and Andreas Tzschach |
| 246 | 3 | 0 | |a one thirty-two three point |
| 264 | 1 | |c 10 June 2015 | |
| 300 | |a 5 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 07.07.2020 | ||
| 520 | |a Interstitial deletions encompassing chromosome bands 1p32.1p32.3 are rare. Only nine unrelated patients with partially overlapping 1p32.1p32.3 deletions of variable size and position have been reported to date. We report on a 17-month-old boy with choanal atresia, hearing loss, urogenital anomalies, and microcephaly in whom an interstitial de novo deletion of 6.4 Mb was detected in 1p32.1p32.3 (genomic position chr1:54,668,618-61,113,264 according to GRCh37/hg19). The deleted region harbors 31 RefSeq genes. Notable genes in the region are PCSK9, haploinsufficiency of which caused low LDL cholesterol plasma levels in the patient, and DAB1, which is a candidate gene for cognitive deficits, microcephaly, and cerebral abnormalities such as ventriculomegaly and agenesis of the corpus callosum. Choanal atresia, microcephaly, and severe hearing loss were previously not known to be associated with 1p32 deletions. Our reported patient thus broadens the spectrum of clinical findings in this chromosome region and further facilitates genotype-phenotype correlations. Additional patients with overlapping deletions and/or point mutations in genes of this region need to be identified to elucidate the role of individual genes for the complex clinical manifestations. © 2015 Wiley Periodicals, Inc. | ||
| 650 | 4 | |a choanal atresia | |
| 650 | 4 | |a DAB1 | |
| 650 | 4 | |a del1p32.1p32.3 | |
| 650 | 4 | |a hearing loss | |
| 650 | 4 | |a microcephaly | |
| 650 | 4 | |a NFIA | |
| 650 | 4 | |a PCSK9 | |
| 650 | 4 | |a SNP-array | |
| 650 | 4 | |a urogenital anomalies | |
| 700 | 1 | |a Jauch, Anna |d 1959- |e VerfasserIn |0 (DE-588)1025525140 |0 (DE-627)722525362 |0 (DE-576)168357496 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t American journal of medical genetics |d New York, NY : Wiley-Liss, 2003 |g 167(2015), 10, Seite 2406-2410 |h Online-Ressource |w (DE-627)302930361 |w (DE-600)1493479-6 |w (DE-576)094475482 |x 1552-4833 |7 nnas |a Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies |
| 773 | 1 | 8 | |g volume:167 |g year:2015 |g number:10 |g pages:2406-2410 |g extent:5 |a Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies |
| 856 | 4 | 0 | |u https://doi.org/10.1002/ajmg.a.37178 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37178 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200707 | ||
| 993 | |a Article | ||
| 994 | |a 2015 | ||
| 998 | |g 1025525140 |a Jauch, Anna |m 1025525140:Jauch, Anna |d 910000 |d 911500 |e 910000PJ1025525140 |e 911500PJ1025525140 |k 0/910000/ |k 1/910000/911500/ |p 4 | ||
| 999 | |a KXP-PPN1703821904 |e 3696076317 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"note":["Gesehen am 07.07.2020"],"id":{"eki":["1703821904"],"doi":["10.1002/ajmg.a.37178"]},"person":[{"role":"aut","display":"Kehrer, Martin","given":"Martin","family":"Kehrer"},{"display":"Jauch, Anna","role":"aut","family":"Jauch","given":"Anna"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"language":["eng"],"title":[{"title_sort":"Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies","title":"Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies"}],"recId":"1703821904","relHost":[{"pubHistory":["116A.2003 - 152A.2010; 155.2011 -"],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"American journal of medical genetics","title":"American journal of medical genetics"}],"language":["eng"],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomaliesAmerican journal of medical genetics","id":{"doi":["10.1002/(ISSN)1552-4833"],"issn":["1552-4833"],"zdb":["1493479-6"],"eki":["302930361"]},"origin":[{"dateIssuedDisp":"2003-","publisher":"Wiley-Liss","dateIssuedKey":"2003","publisherPlace":"New York, NY"}],"recId":"302930361","part":{"pages":"2406-2410","volume":"167","extent":"5","issue":"10","text":"167(2015), 10, Seite 2406-2410","year":"2015"},"note":["Gesehen am 25.02.20"],"titleAlt":[{"title":"American journal of medical genetics / A"}]}],"origin":[{"dateIssuedKey":"2015","dateIssuedDisp":"10 June 2015"}],"name":{"displayForm":["Martin Kehrer, Karin Schäferhoff, Michael Bonin, Anna Jauch, Andrea Bevot, and Andreas Tzschach"]},"physDesc":[{"extent":"5 S."}]} | ||
| SRT | |a KEHRERMARTINTERSTITI1020 | ||