Table 1

Clinical and cytogenetic findings in reported cases of “pure” partial trisomy 6q

Group IGroup II
Nielsen et al25
Turleau and de Grouchy2Pivnick et al17 Conrad et al18 Taysi et al19 Stamberg et al20 Chen et al21 Giordino et al23 Henegariu et al24 Pierpont et al22 Present case
Case 1Case 2Case 1Case 2
Age2 y12 yBirth22 mth5 mthStillborn20 mth19 y14 y2 mth8 y7 y17 y
Mental retardation++++++++++
Growth retardation+++++++++
Frontal bossing++++
Prominent eyes+++
Downward slanting palpebral fissures++++++++
Midface hypoplasia+++
Flat nasal bridge+++++++
Anteverted nares++++++
High arched palate+++++
Low set/rotated ears+++++
Bow shaped mouth++++++++++
Short/webbed neck+++++++
Hand anomalies1-151 ++++++++++++
Foot anomalies1-152 +++++++
Genital anomalies1-153 ++++
OtherOmpalocele, encephalocele, imperforate anusAnteriorly placed anusTelecanthus, joint contracturesTurricephaly, round face, short philtrum, macroglossia, scoliosis, obesityBilateral retinal detachment, prominent chin, flat occiput
Trisomic region6q26→6q276q26→6qter6q23→6qter6q22.3→6qter6q22→6qter6q21→6qter6q15→6q276q15→6q276q11→6q156q23.3→6q25.56q13→6q216q22.1→6q23.36q22.1→6q23.3
  • 1-150 M = microcephalic, B = brachycephalic, A = acrocephalic, T = turricephalic, D = dolichocephalic.

  • 1-151 Joint contractures, clinodactyly, simian crease.

  • 1-152 Syndactyly, displaced toes, talipes equinovarus.

  • 1-153 Cryptorchidism, hypospadias, hypoplastic labia, penis, or scrotum.