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Duplication 17p11.2 i n two pat~ents: c l~n~c a l features and molecular cytogenet~c findings. C M Powell A S Aylsworth K A Kalser-Rogers. K W Rao Unlv of North Carolma Chapel HIII. NC Slnce patlents w~th dupllcatlons or delet~ons ~nvolvlng the Smlth-Magenls syndrome (SMS) reglon at 17p11 2 are thought to arlse by the same mechanism of unequal recomblnat~on between a repeat sequence that flanks the SMS reglon (Chen et al 1997) ~t 1s surprlslng that the dupl~cat~on patients have been so rarely reported (Magenls et al 1986. Kozma et al 1991, Brown et al 1996 Chen et al , 1997 and 1998. Summers et al 1998 These pat~ents are most llkely underd~agnosed because of lack of defined cllnlcal features and subtlety of the dupl~cat~on wlth routlne cytogenetlc stud~es We report two addlt~onal patlents and revlew the common physlcal features In thls dupllcatlon syndrome Patlent 1 IS an 11 month old male wlth postnatal growth retardahon, length at mean for 5 months and head clrcumference average for 6 months He has ptosls of the left eyel~d narrow nose and palate small mand~ble, sacral dlmple overlapping toes decreased tone and global developmental delay Patlent 2 IS a 6 year old female w~th a history of failure to thnve In early childhood and developmental delay He~ght we~ght and head clrcumference are at the 50" percent~le she has upslantlng narrow palpebral fissures broad eyebrows d~stal joint lax~ty and normal neurologic exam Developmental testlng at age 6 showed a full scale IQ of 65, w~th performance IQ 60 and verbal IQ 78 and behav~or consistent w~th attent~on defic~t hyperact~v~ty d~sorder Cytogenet~c analyses wlth G-bandlng showed dupllcatlon of 17p11 2 wlth a narrow extra gray band In the m~ddle of the G-negat~ve area In the p l l 2 reglon The dupllcatlon was confirmed wlth a FISH assay uslng the Dl75258 probe (Onwr) for the SMS reglon The Dl75122 cosm~d probe (Oncor), whlch hybr~d~zes w~t h~n the reglon that IS dupllcated In Charcot-Mar~e-Tooth type 1A patlents showed a slngle slgnal on each chromosome 17 ~ndlcat~ng that thls reglon IS not dupllcatedCornpanson of fac~al features reveals strlklng slmllarltles between patlent 2 and the patlent reported by Magen~s It also appears that desp~te s~gnlficant early problems wlth we~ght galn and development these patlents have fewer problems as they get older and may funct~on In the low normal to borderllne range Detalled cllnlcal descr~pt~ons of pat~ents w~th dupl~cat~ons of 1 7 p l l 2 will be helpful In further dellneat~on and recognltlon of thls dupllcat~on syndrome (22) (q13.3) (D22S39-D22S75X2). Patient 2 (46XY, de1(22)(q13. l), Patient 3 (ish del(22)(q13q 13) (LSL ARSA-) de novo). Thus. all three patients appear to share a deletion affecting the terminal 22q13 region.Literature review of the patients with 22q13 deletion is presented. Initially, the deletion was detected using high resolution chromosome analysis. Recently a FlSH probe @22S39) through its fortuitous use as a control probe i n testing for 22ql I deletions has been used to demonstrate this deletion. Th...

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The purpose of this article is to serve as a resource for readers considering the development of a web-based continuing education offering in their particular specialty areas. A theory-based instructional design using a face-to-face genetics summer institute as a content template and incorporating several levels of planned formative evaluation are described. Summative evaluation strategies revealing satisfaction with the format, improved knowledge, and ability to use genetics knowledge in participants' work setting are also discussed. Finally, lessons learned following completion of two 18-week web-based genetics institutes are shared.