556:
for gross/fine motor skills, and regular monitoring of congenital anomalies or defects. Due to increased risk of obesity associated with the syndrome, psychiatric medications associated with weight gain are not recommended. Social work involvement and community support can also benefit affected
295:
beginning in childhood. BMI in individuals with the syndrome is significantly higher than that in the general population by age 5, and 50% of carriers are obese by age 7. By adulthood, 75% of individuals are obese. Affected individuals report
1187:
1175:
524:
or autism spectrum disorder. Prevalence of 16p11.2 deletion syndrome was initially estimated to be 3 in 10,000 in the general population, though more recent estimates have increased to 1 in 2,000.
797:
Steinman, Kyle J.; Spence, Sarah J.; et al. (November 2016). "16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort".
1261:
192:. The average IQ of individuals with 16p11.2 deletion syndrome is approximately 2 standard deviations below that of family members without the deletion. Many have
1276:
212:
893:"Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions: 16p11.2 Deletion and Disinhibited Eating"
252:
532:
Management of 16p11.2 deletion syndrome is highly variable and based on an individual's specific symptoms or deficits. Interventions may include
276:
1281:
319:
is slightly more prevalent in 16p11.2 deletion syndrome compared to the general population. Approximately one-third of individuals have a
1199:
211:
Half of affected individuals have at least one psychiatric or behavioral diagnosis. Approximately 30% of individuals are diagnosed with
41:
1266:
248:
1099:"Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly"
737:"Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children"
1228:
328:
1042:"Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome"
331:
associated with scoliosis are also observed. 16p11.2 deletion has been associated with a 13.9-fold increased risk of
184:
and psychiatric or behavioral issues, though severity varies significantly. Most people with the deletion don't have
268:
181:
152:
108:
1271:
164:
112:
521:
431:
272:
185:
156:
120:
61:
1239:
347:
244:
197:
116:
103:
37:
509:
is associated with obesity and may be involved in the pathogenesis of obesity observed in the syndrome.
553:
324:
232:
395:
189:
822:
517:
351:
301:
32:
842:"A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders"
1138:
1120:
1079:
1061:
1022:
1004:
965:
914:
873:
814:
774:
756:
712:
668:
650:
604:
533:
193:
91:
45:
496:
1128:
1110:
1069:
1053:
1012:
996:
955:
945:
904:
863:
853:
806:
764:
748:
702:
658:
642:
549:
513:
260:
82:
267:
were observed in at least 15% of individuals in a cohort of 136 16p11.2 deletion carriers.
305:
288:
240:
216:
96:
53:
49:
663:
630:
1133:
1098:
1074:
1041:
1017:
984:
960:
933:
868:
841:
769:
736:
308:
comprise the majority of medical challenges for adults with 16p11.2 deletion syndrome.
1255:
355:
332:
320:
300:
due to sensory and social cues or boredom. Obesity and related comorbidities such as
236:
148:
516:. Approximately 7% of affected individuals inherit the mutation from a parent in an
826:
316:
256:
858:
752:
1115:
950:
596:
1057:
691:"Association between Microdeletion and Microduplication at 16p11.2 and Autism"
646:
537:
449:
382:
350:
of ~600 kilobases between the recurrent breakpoint regions BP4 and BP5 on the
297:
201:
1124:
1065:
1040:
Kleinendorst, Lotte; van den Heuvel, Lieke M.; et al. (September 2020).
1008:
760:
654:
1167:
545:
264:
1142:
1083:
1026:
969:
918:
877:
818:
778:
716:
672:
608:
503:
Nearby regions on chromosome 16 may also be affected. Notably, deletion of
16:
Rare condition caused by a microdeletion on the short arm of chromosome 16
1234:
810:
707:
690:
541:
344:
77:
287:
16p11.2 deletion syndrome strongly predisposes individuals to increased
147:
is a rare genetic condition caused by microdeletion on the short arm of
491:
416:
292:
228:
205:
160:
66:
1000:
909:
892:
219:
disorder (ASD), and nearly all share some behavioral traits with ASD.
1191:
1179:
477:
444:
426:
411:
180:
The most commonly observed features of 16p11.2 deletion syndrome are
163:. 16p11.2 deletion is estimated to account for approximately 1% of
1097:
Szelest, Monika; Stefaniak, Martyna; et al. (10 March 2021).
505:
472:
464:
454:
436:
421:
400:
387:
1223:
1204:
932:
Egolf, Laura E.; Vaksman, Zalman; et al. (September 2019).
689:
Weiss, Lauren A.; Shen, Yiping; et al. (14 February 2008).
629:
Chung, Wendy K; Roberts, Timothy PL; et al. (1 June 2021).
520:
fashion. Parents carrying the deletion often have no history of
459:
377:
366:
840:
Zufferey, Flore; Sherr, Elliott H; et al. (October 2012).
934:"Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma"
985:"An Overview of Monogenic and Syndromic Obesities in Humans"
891:
Gill, Richard; Chen, Qixuan; et al. (December 2014).
735:
Fetit, Rana; Price, David J.; et al. (October 2020).
215:. Approximately 20-25% of individuals are diagnosed with
595:
Taylor, Cora M.; Smith, Rebecca; et al. (1993).
358:. Genes in the BP4-BP5 region include the following:
1157:
1214:
1161:
134:
126:
102:
90:
73:
60:
31:
26:
243:are also reported. Many individuals may exhibit
792:
790:
788:
684:
682:
635:Current Opinion in Genetics & Development
227:Up to 25% of affected individuals experience
8:
799:American Journal of Medical Genetics Part A
1158:
23:
1132:
1114:
1073:
1016:
959:
949:
908:
867:
857:
768:
730:
728:
726:
706:
662:
624:
622:
620:
618:
590:
343:16p11.2 deletion syndrome is caused by a
588:
586:
584:
582:
580:
578:
576:
574:
572:
570:
213:attention deficit hyperactivity disorder
1229:Proximal 16p11.2 microdeletion syndrome
566:
151:. Most affected individuals experience
1262:Syndromes with intellectual disability
938:The American Journal of Human Genetics
277:paroxysmal kinesigenic choreoathetosis
603:. University of Washington, Seattle.
512:16p11.2 deletion typically occurs by
7:
42:developmental coordination disorders
983:Chung, Wendy K. (12 October 2011).
1277:Autosomal monosomies and deletions
1046:European Journal of Human Genetics
279:are observed in some individuals.
14:
263:, and truncal or symmetric limb
695:New England Journal of Medicine
1:
859:10.1136/jmedgenet-2012-101203
159:, as well as childhood-onset
1282:Autosomal dominant disorders
753:10.1097/YPG.0000000000000259
597:"16p11.2 Recurrent Deletion"
557:individuals and caregivers.
176:Developmental and behavioral
846:Journal of Medical Genetics
631:"16p11.2 deletion syndrome"
1298:
1116:10.1186/s12920-021-00929-8
951:10.1016/j.ajhg.2019.07.020
231:. The most common type is
182:global developmental delay
153:global developmental delay
109:Global developmental delay
1058:10.1038/s41431-020-0644-6
647:10.1016/j.gde.2021.01.011
145:16p11.2 deletion syndrome
69:and related comorbidities
27:16p11.2 deletion syndrome
165:autism spectrum disorder
113:autism spectrum disorder
522:intellectual disability
273:conductive hearing loss
186:intellectual disability
157:intellectual disability
121:intellectual disability
1267:Syndromes with obesity
198:motor speech disorders
117:chromosome abnormality
104:Differential diagnosis
50:psychiatric conditions
190:learning disabilities
1103:BMC Medical Genomics
989:Pediatr Blood Cancer
811:10.1002/ajmg.a.37820
741:Psychiatric Genetics
708:10.1056/NEJMoa075974
554:occupational therapy
540:treatment, standard
233:tonic-clonic seizure
329:Vertebral anomalies
130:Depends on symptoms
1215:External resources
518:autosomal dominant
325:café au lait spots
302:insulin resistance
261:gait abnormalities
194:language disorders
171:Signs and symptoms
1249:
1248:
1001:10.1002/pbc.23372
910:10.1002/oby.20892
903:(12): 2625–2631.
805:(11): 2943–2955.
534:special education
142:
141:
92:Diagnostic method
46:language disorder
21:Medical condition
1289:
1272:Syndromic autism
1159:
1147:
1146:
1136:
1118:
1094:
1088:
1087:
1077:
1052:(9): 1196–1204.
1037:
1031:
1030:
1020:
980:
974:
973:
963:
953:
929:
923:
922:
912:
888:
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861:
837:
831:
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783:
782:
772:
732:
721:
720:
710:
686:
677:
676:
666:
626:
613:
612:
592:
514:de novo mutation
241:absence seizures
188:, but many have
119:associated with
24:
1297:
1296:
1292:
1291:
1290:
1288:
1287:
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1039:
1038:
1034:
982:
981:
977:
931:
930:
926:
890:
889:
885:
852:(10): 660–668.
839:
838:
834:
796:
795:
786:
734:
733:
724:
688:
687:
680:
628:
627:
616:
594:
593:
568:
563:
530:
501:
341:
314:
306:type 2 diabetes
289:body mass index
285:
255:abnormalities.
225:
217:autism spectrum
178:
173:
97:Genetic testing
54:autism spectrum
22:
17:
12:
11:
5:
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1196:
1184:
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1163:
1162:Classification
1155:
1154:External links
1152:
1149:
1148:
1089:
1032:
995:(1): 122–128.
975:
944:(3): 658–668.
924:
883:
832:
784:
747:(5): 136–140.
722:
701:(7): 667–675.
678:
614:
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529:
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499:
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385:
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369:
364:
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340:
337:
313:
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284:
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237:focal seizures
224:
221:
177:
174:
172:
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140:
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64:
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35:
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3:
2:
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990:
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389:
386:
384:
381:
379:
376:
373:
370:
368:
365:
362:
361:
359:
357:
356:chromosome 16
353:
349:
348:microdeletion
346:
338:
336:
334:
333:neuroblastoma
330:
326:
322:
321:sacral dimple
318:
311:
309:
307:
303:
299:
294:
290:
282:
280:
278:
274:
270:
269:Sensorineural
266:
262:
258:
254:
250:
246:
242:
238:
234:
230:
222:
220:
218:
214:
209:
207:
203:
199:
195:
191:
187:
183:
175:
170:
168:
166:
162:
158:
154:
150:
149:chromosome 16
146:
137:
133:
129:
125:
122:
118:
114:
110:
107:
105:
101:
98:
95:
93:
89:
85:
84:
79:
76:
72:
68:
65:
63:
62:Complications
59:
55:
51:
47:
43:
39:
36:
34:
30:
25:
19:
1233:
1222:
1198:
1186:
1174:
1106:
1102:
1092:
1049:
1045:
1035:
992:
988:
978:
941:
937:
927:
900:
896:
886:
849:
845:
835:
802:
798:
744:
740:
698:
694:
638:
634:
600:
548:assessment,
531:
511:
504:
502:
345:heterozygous
342:
317:Macrocephaly
315:
286:
257:Hyporeflexia
226:
210:
179:
144:
143:
81:
38:motor speech
18:
601:GeneReviews
544:treatment,
538:psychiatric
298:hyperphagia
138:~1 in 2,000
80:(typically
1256:Categories
561:References
528:Management
291:(BMI) and
235:; complex
223:Neurologic
202:dysarthria
200:including
127:Management
1183:: LD44.G1
1125:1755-8794
1109:(1): 76.
1066:1476-5438
1009:1545-5009
761:0955-8829
655:0959-437X
641:: 49–56.
546:audiology
352:short arm
265:hypotonia
135:Frequency
1235:Orphanet
1143:33691695
1084:32415274
1027:21994130
970:31474320
919:25234362
878:23054248
819:27410714
779:32732550
717:18184952
673:33667823
664:10256135
609:20301775
550:physical
542:epilepsy
441:C16orf92
392:C16orf53
374:C16orf54
363:SLC7A5P1
339:Genetics
229:seizures
56:features
33:Symptoms
1195:: Q93.5
1134:7945342
1075:7608422
1018:3215910
961:6731370
897:Obesity
869:3494011
827:2469192
770:7497286
497:SULT1A4
492:SULT1A3
417:TMEM219
293:obesity
283:Obesity
206:apraxia
167:cases.
161:obesity
83:de novo
78:Genetic
67:Obesity
1240:261197
1205:611913
1141:
1131:
1123:
1082:
1072:
1064:
1025:
1015:
1007:
968:
958:
917:
876:
866:
825:
817:
777:
767:
759:
715:
671:
661:
653:
607:
478:CORO1A
445:FAM57B
432:INO80E
427:HIRIP3
412:KCTD13
408:ASPHD1
405:SEZ6L2
115:, any
74:Causes
823:S2CID
506:SH2B1
488:SLX1B
485:SLX1A
482:BOLA2
473:MAPK3
469:GDPD3
465:YPEL3
455:PPP4C
450:ALDOA
437:DOC2A
422:TAOK2
401:CDIPT
388:PRRT2
312:Other
251:, or
1224:GARD
1200:OMIM
1139:PMID
1121:ISSN
1080:PMID
1062:ISSN
1023:PMID
1005:ISSN
966:PMID
915:PMID
874:PMID
815:PMID
775:PMID
757:ISSN
713:PMID
669:PMID
651:ISSN
605:PMID
552:and
460:TBX6
378:ZG16
371:QPRT
275:and
239:and
204:and
196:and
155:and
40:and
1188:ICD
1176:ICD
1129:PMC
1111:doi
1070:PMC
1054:doi
1013:PMC
997:doi
956:PMC
946:doi
942:105
905:doi
864:PMC
854:doi
807:doi
803:170
765:PMC
749:doi
703:doi
699:358
659:PMC
643:doi
396:MVP
383:MAZ
367:SPN
354:of
323:or
304:or
271:or
253:MRI
245:EEG
1258::
1238::
1227::
1203::
1192:10
1180:11
1137:.
1127:.
1119:.
1107:14
1105:.
1101:.
1078:.
1068:.
1060:.
1050:28
1048:.
1044:.
1021:.
1011:.
1003:.
993:58
991:.
987:.
964:.
954:.
940:.
936:.
913:.
901:22
899:.
895:.
872:.
862:.
850:49
848:.
844:.
821:.
813:.
801:.
787:^
773:.
763:.
755:.
745:30
743:.
739:.
725:^
711:.
697:.
693:.
681:^
667:.
657:.
649:.
639:68
637:.
633:.
617:^
599:.
569:^
536:,
335:.
327:.
259:,
249:CT
247:,
208:.
111:,
52:,
48:,
44:,
1190:-
1178:-
1168:D
1145:.
1113::
1086:.
1056::
1029:.
999::
972:.
948::
921:.
907::
880:.
856::
829:.
809::
781:.
751::
719:.
705::
675:.
645::
611:.
86:)
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